The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. Methods This multi-centre prospective...
Uloženo v:
| Vydáno v: | Genome medicine Ročník 15; číslo 1; s. 1 - 16 |
|---|---|
| Hlavní autoři: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
| Vydáno: |
London
BioMed Central
19.09.2023
BioMed Central Ltd Springer Nature B.V BMC |
| Témata: | |
| ISSN: | 1756-994X, 1756-994X |
| On-line přístup: | Získat plný text |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|
| Abstract | Background
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.
Methods
This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.
Results
Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.
Conclusions
These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. |
|---|---|
| AbstractList | Background
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.
Methods
This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.
Results
Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.
Conclusions
These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. Methods This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken. Results Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ( $8744AUD) compared to standard testing followed by WGS ($ 24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing. Conclusions These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. Keywords: Familial cancer, Genetics, Variants, Whole-genome sequencing, Diagnostic testing, Health economics BackgroundMany families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.MethodsThis multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.ResultsPathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.ConclusionsThese findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.BACKGROUNDMany families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer.This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.METHODSThis multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken.Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.RESULTSPathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing.These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability.CONCLUSIONSThese findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. Methods This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken. Results Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ($8744AUD) compared to standard testing followed by WGS ($24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing. Conclusions These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry pathogenic variants in cancer predisposition genes and be at higher risk for developing cancer. This multi-centre prospective study recruited 195 cancer-affected participants suspected to have a hereditary cancer syndrome for whom previous clinical targeted genetic testing was either not informative or not available. To identify pathogenic disease-causing variants explaining participant presentation, germline whole-genome sequencing (WGS) and a comprehensive cancer virtual gene panel analysis were undertaken. Pathogenic variants consistent with the presenting cancer(s) were identified in 5.1% (10/195) of participants and pathogenic variants considered secondary findings with potential risk management implications were identified in another 9.7% (19/195) of participants. Health economic analysis estimated the marginal cost per case with an actionable variant was significantly lower for upfront WGS with virtual panel ( $8744AUD) compared to standard testing followed by WGS ($ 24,894AUD). Financial analysis suggests that national adoption of diagnostic WGS testing would require a ninefold increase in government annual expenditure compared to conventional testing. These findings make a case for replacing conventional testing with WGS to deliver clinically important benefits for cancer patients and families. The uptake of such an approach will depend on the perspectives of different payers on affordability. |
| ArticleNumber | 74 |
| Audience | Academic |
| Author | McCart Reed, Amy E. Leonard, Conrad Troth, Simon L. Wallis, Mathew J. Williams, Rachel A. Holmes, Oliver Tudini, Emma Pickett, Hilda A. Walsh, Maie James, Paul A. Parsons, Michael T. Townshend, Sharron L. Canson, Daffodil M. Burke, Jo Higgins, Megan J. Winship, Ingrid M. Davidson, Aimee L. Monnik, Melissa J. Poplawski, Nicola K. Hollway, Georgina E. Harris, Marion T. Dressel, Uwe Pearson, John V. Trainer, Alison H. Susman, Rachel D. Al-Shinnag, Mohammad K. Kiraly-Borri, Catherine Cops, Elisa J. Mansour, Julia L. Mar Fan, Helen G. Millward, Michael W. Austin, Rachel L. Nichols, Cassandra B. Vidgen, Miranda E. Ip, Emilia L. Glubb, Dylan M. Fortuno, Cristina Waddell, Nicola Spurdle, Amanda B. Lakis, Vanessa Norris, Sarah Lau, Chiyan Xu, Qinying Tucker, Katherine M. Newell, Felicity Pachter, Nicholas S. Ward, Robyn L. Goodwin, Annabel Koufariotis, Lambros T. Ragunathan, Abiramy Wood, Scott |
| Author_xml | – sequence: 1 givenname: Aimee L. orcidid: 0000-0001-5034-5996 surname: Davidson fullname: Davidson, Aimee L. organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 2 givenname: Uwe surname: Dressel fullname: Dressel, Uwe organization: Faculty of Medicine, University of Queensland – sequence: 3 givenname: Sarah surname: Norris fullname: Norris, Sarah organization: Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14) – sequence: 4 givenname: Daffodil M. surname: Canson fullname: Canson, Daffodil M. organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 5 givenname: Dylan M. surname: Glubb fullname: Glubb, Dylan M. organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 6 givenname: Cristina surname: Fortuno fullname: Fortuno, Cristina organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 7 givenname: Georgina E. surname: Hollway fullname: Hollway, Georgina E. organization: QIMR Berghofer Medical Research Institute – sequence: 8 givenname: Michael T. surname: Parsons fullname: Parsons, Michael T. organization: QIMR Berghofer Medical Research Institute – sequence: 9 givenname: Miranda E. surname: Vidgen fullname: Vidgen, Miranda E. organization: QIMR Berghofer Medical Research Institute, Australian Genomics – sequence: 10 givenname: Oliver surname: Holmes fullname: Holmes, Oliver organization: QIMR Berghofer Medical Research Institute – sequence: 11 givenname: Lambros T. surname: Koufariotis fullname: Koufariotis, Lambros T. organization: QIMR Berghofer Medical Research Institute – sequence: 12 givenname: Vanessa surname: Lakis fullname: Lakis, Vanessa organization: QIMR Berghofer Medical Research Institute – sequence: 13 givenname: Conrad surname: Leonard fullname: Leonard, Conrad organization: QIMR Berghofer Medical Research Institute – sequence: 14 givenname: Scott surname: Wood fullname: Wood, Scott organization: QIMR Berghofer Medical Research Institute – sequence: 15 givenname: Qinying surname: Xu fullname: Xu, Qinying organization: QIMR Berghofer Medical Research Institute – sequence: 16 givenname: Amy E. surname: McCart Reed fullname: McCart Reed, Amy E. organization: Centre for Clinical Research, University of Queensland – sequence: 17 givenname: Hilda A. surname: Pickett fullname: Pickett, Hilda A. organization: Children’s Medical Research Institute, University of Sydney – sequence: 18 givenname: Mohammad K. surname: Al-Shinnag fullname: Al-Shinnag, Mohammad K. organization: Faculty of Medicine, University of Queensland, Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 19 givenname: Rachel L. surname: Austin fullname: Austin, Rachel L. organization: Australian Genomics, Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 20 givenname: Jo surname: Burke fullname: Burke, Jo organization: Tasmanian Clinical Genetics Service, Royal Hobart Hospital – sequence: 21 givenname: Elisa J. surname: Cops fullname: Cops, Elisa J. organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital – sequence: 22 givenname: Cassandra B. surname: Nichols fullname: Nichols, Cassandra B. organization: Genetic Services of Western Australia, King Edward Memorial Hospital – sequence: 23 givenname: Annabel surname: Goodwin fullname: Goodwin, Annabel organization: Cancer Genetics Department, Royal Prince Alfred Hospital, University of Sydney – sequence: 24 givenname: Marion T. surname: Harris fullname: Harris, Marion T. organization: Monash Health Familial Cancer, Monash Health, Faculty of Medicine, Nursing and Health Sciences, Monash University – sequence: 25 givenname: Megan J. surname: Higgins fullname: Higgins, Megan J. organization: Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 26 givenname: Emilia L. surname: Ip fullname: Ip, Emilia L. organization: Cancer Genetics, Liverpool Hospital – sequence: 27 givenname: Catherine surname: Kiraly-Borri fullname: Kiraly-Borri, Catherine organization: Department of Health, Genetic Services of WA – sequence: 28 givenname: Chiyan surname: Lau fullname: Lau, Chiyan organization: Faculty of Medicine, University of Queensland, Genomics, Pathology Queensland – sequence: 29 givenname: Julia L. surname: Mansour fullname: Mansour, Julia L. organization: Tasmanian Clinical Genetics Service, Royal Hobart Hospital – sequence: 30 givenname: Michael W. surname: Millward fullname: Millward, Michael W. organization: Tasmanian Clinical Genetics Service, Royal Hobart Hospital – sequence: 31 givenname: Melissa J. surname: Monnik fullname: Monnik, Melissa J. organization: Adult Genetics Unit, Royal Adelaide Hospital – sequence: 32 givenname: Nicholas S. surname: Pachter fullname: Pachter, Nicholas S. organization: Genetic Services of Western Australia, King Edward Memorial Hospital, Faculty of Health and Medical Sciences, University of Western Australia – sequence: 33 givenname: Abiramy surname: Ragunathan fullname: Ragunathan, Abiramy organization: Familial Cancer Services, The Crown Princess Mary Cancer Centre, Westmead Hospital – sequence: 34 givenname: Rachel D. surname: Susman fullname: Susman, Rachel D. organization: Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 35 givenname: Sharron L. surname: Townshend fullname: Townshend, Sharron L. organization: Genetic Services of Western Australia, King Edward Memorial Hospital – sequence: 36 givenname: Alison H. surname: Trainer fullname: Trainer, Alison H. organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Department of Medicine, University of Melbourne – sequence: 37 givenname: Simon L. surname: Troth fullname: Troth, Simon L. organization: Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 38 givenname: Katherine M. surname: Tucker fullname: Tucker, Katherine M. organization: Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Hereditary Cancer Centre, Prince of Wales Hospital – sequence: 39 givenname: Mathew J. surname: Wallis fullname: Wallis, Mathew J. organization: Tasmanian Clinical Genetics Service, Royal Hobart Hospital, School of Medicine and Menzies Institute for Medical Research, University of Tasmania – sequence: 40 givenname: Maie surname: Walsh fullname: Walsh, Maie organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital – sequence: 41 givenname: Rachel A. surname: Williams fullname: Williams, Rachel A. organization: Prince of Wales Clinical School, UNSW Medicine and Health, The University of New South Wales, Hereditary Cancer Centre, Prince of Wales Hospital – sequence: 42 givenname: Ingrid M. surname: Winship fullname: Winship, Ingrid M. organization: Department of Medicine, University of Melbourne, Genomic Medicine and Familial Cancer Clinic, Royal Melbourne Hospital – sequence: 43 givenname: Felicity surname: Newell fullname: Newell, Felicity organization: QIMR Berghofer Medical Research Institute – sequence: 44 givenname: Emma surname: Tudini fullname: Tudini, Emma organization: QIMR Berghofer Medical Research Institute, Australian Genomics – sequence: 45 givenname: John V. surname: Pearson fullname: Pearson, John V. organization: QIMR Berghofer Medical Research Institute – sequence: 46 givenname: Nicola K. surname: Poplawski fullname: Poplawski, Nicola K. organization: Adult Genetics Unit, Royal Adelaide Hospital, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide – sequence: 47 givenname: Helen G. surname: Mar Fan fullname: Mar Fan, Helen G. organization: Faculty of Medicine, University of Queensland, Genetic Health Queensland, Royal Brisbane and Women’s Hospital – sequence: 48 givenname: Paul A. surname: James fullname: James, Paul A. organization: Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Sir Peter MacCallum Department of Oncology, University of Melbourne – sequence: 49 givenname: Amanda B. surname: Spurdle fullname: Spurdle, Amanda B. email: amanda.spurdle@qimrberghofer.edu.au organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 50 givenname: Nicola orcidid: 0000-0002-3950-2476 surname: Waddell fullname: Waddell, Nicola organization: QIMR Berghofer Medical Research Institute, Faculty of Medicine, University of Queensland – sequence: 51 givenname: Robyn L. orcidid: 0000-0002-6877-8906 surname: Ward fullname: Ward, Robyn L. email: robyn.ward@sydney.edu.au organization: Faculty of Medicine, University of Queensland, Faculty of Medicine and Health, University of Sydney, L2.22 The Quadrangle (A14) |
| BookMark | eNp9Ustq3DAUNSWlebQ_0JWgULpxasmWZK9KCH0EAt2k0J2QpesZBY00leSE7Lruul_YL-mdTEoyoQShB9I553KPzmG1F2KAqnpNm2NKe_E-07aRbd0wnJThSp9VB1RyUQ9D933vwXm_Osz5smlExzr5otpvpWQtZ-yg-nWxBGK8C85oT-bivCs3RAdLTMwlkziR62X0UC8gxBWQDD9mCMaFBSmRWChgCjE6GEgkz9nAurhxK3Klk9Oh5D8_f2uymn1xdXYFyDrFvEaau8LKcRlTIbnM9uZl9XzSPsOru_2o-vbp48Xpl_r86-ez05Pz2ggqSt1OhgvTUcu1aHtuOVjgndaj5RZ6Cr3EV8Gpbaahb2U_gZVD03I-cUY7y9qj6myra6O-VOvkVjrdqKidur2IaaF0Ks54UCA5laOUAzOy4007sJF3o5CjhcHoXqLWh63Weh5XYA2EkrTfEd19CW6pFvFK0YY3KMtR4d2dQopobS5q5dBG73WAOGfFeiGwi4ZRhL55BL2McwroFaKk7IZhkO09aqGxAxemiIXNRlSdSMH7rhFiY8Lxf1A4LKycwZxNDu93CG8fEJagfVnm6DExMeRdYL8FGvznnGBSxhW9gWEF57FztUmv2qZXYXrVbXrVpkH2iPrPyCdJ7ZaUERwWkO5deYL1F6S2BHg |
| CitedBy_id | crossref_primary_10_1007_s40258_025_00949_w crossref_primary_10_5409_wjcp_v13_i3_95010 crossref_primary_10_1002_ajmg_a_63788 crossref_primary_10_1016_j_cmpb_2024_108571 crossref_primary_10_1007_s10689_025_00445_z crossref_primary_10_1016_j_prp_2024_155773 crossref_primary_10_1038_s41416_024_02721_8 crossref_primary_10_1055_a_2531_2230 |
| Cites_doi | 10.1101/gr.114876.110 10.1093/bioinformatics/btq033 10.1016/j.dnarep.2009.09.009 10.1038/nature12981 10.1038/s41586-020-2287-8 10.1093/bioinformatics/btv195 10.1002/gcc.22488 10.1016/j.ajhg.2019.06.003 10.1038/gim.2015.30 10.1038/s41698-021-00155-6 10.1038/ng.2892 10.1016/j.jbi.2019.103208 10.1038/jhg.2014.88 10.1016/j.cell.2018.03.039 10.1038/s41586-020-2308-7 10.1136/jmedgenet-2020-107140 10.1186/s12881-018-0691-9 10.1016/j.gim.2021.12.011 10.1371/journal.pone.0074380 10.1186/bcr2796 10.1093/hmg/ddy005 10.1093/nar/gkx1153 10.1093/bioinformatics/bts378 10.1016/j.jbi.2008.08.010 10.1186/s12920-021-00948-5 10.1016/j.ajhg.2016.03.001 10.1186/s13059-016-0974-4 10.1161/CIRCGENETICS.117.001768 10.1056/NEJM200007133430201 10.3390/ijms18020308 10.1093/bioinformatics/btp352 10.14806/ej.17.1.200 10.1007/s12687-021-00551-2 10.1093/bib/bbs017 10.1002/mgg3.1508 10.1038/gim.2017.119 10.1002/humu.24074 10.1111/ajco.12145 10.1016/j.ajhg.2016.08.016 10.1186/s12913-020-05318-y 10.1371/journal.pone.0030377 10.1016/j.jns.2020.117260 10.1136/jmg-2022-108808 10.1101/gr.107524.110 10.1016/j.ajhg.2017.12.007 10.1186/s13058-015-0627-7 10.1002/humu.24468 10.1186/s13073-022-01073-3 |
| ContentType | Journal Article |
| Copyright | The Author(s) 2023 COPYRIGHT 2023 BioMed Central Ltd. 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. 2023. BioMed Central Ltd., part of Springer Nature. BioMed Central Ltd., part of Springer Nature 2023 |
| Copyright_xml | – notice: The Author(s) 2023 – notice: COPYRIGHT 2023 BioMed Central Ltd. – notice: 2023. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. – notice: 2023. BioMed Central Ltd., part of Springer Nature. – notice: BioMed Central Ltd., part of Springer Nature 2023 |
| DBID | C6C AAYXX CITATION 3V. 7X7 7XB 88E 8FE 8FH 8FI 8FJ 8FK ABUWG AFKRA AZQEC BBNVY BENPR BHPHI CCPQU DWQXO FYUFA GHDGH GNUQQ HCIFZ K9. LK8 M0S M1P M7P PHGZM PHGZT PIMPY PJZUB PKEHL PPXIY PQEST PQGLB PQQKQ PQUKI PRINS 7X8 5PM DOA |
| DOI | 10.1186/s13073-023-01223-1 |
| DatabaseName | SpringerOpen Free (Free internet resource, activated by CARLI) CrossRef ProQuest Central (Corporate) Health & Medical Collection ProQuest Central (purchase pre-March 2016) Medical Database (Alumni Edition) ProQuest SciTech Collection ProQuest Natural Science Collection ProQuest Hospital Collection Hospital Premium Collection (Alumni Edition) ProQuest Central (Alumni) (purchase pre-March 2016) ProQuest Central ProQuest Central UK/Ireland ProQuest Central Essentials - QC Biological Science Collection ProQuest Central Natural Science Collection ProQuest One ProQuest Central Korea Proquest Health Research Premium Collection Health Research Premium Collection (Alumni) ProQuest Central Student SciTech Premium Collection ProQuest Health & Medical Complete (Alumni) Biological Sciences Health & Medical Collection (Alumni Edition) Medical Database Biological Science Database Proquest Central Premium ProQuest One Academic Publicly Available Content Database ProQuest Health & Medical Research Collection ProQuest One Academic Middle East (New) ProQuest One Health & Nursing ProQuest One Academic Eastern Edition (DO NOT USE) ProQuest One Applied & Life Sciences ProQuest One Academic (retired) ProQuest One Academic UKI Edition ProQuest Central China MEDLINE - Academic PubMed Central (Full Participant titles) DOAJ Directory of Open Access Journals |
| DatabaseTitle | CrossRef Publicly Available Content Database ProQuest Central Student ProQuest One Academic Middle East (New) ProQuest Central Essentials ProQuest Health & Medical Complete (Alumni) ProQuest Central (Alumni Edition) SciTech Premium Collection ProQuest One Community College ProQuest One Health & Nursing ProQuest Natural Science Collection ProQuest Central China ProQuest Central ProQuest One Applied & Life Sciences ProQuest Health & Medical Research Collection Health Research Premium Collection Health and Medicine Complete (Alumni Edition) Natural Science Collection ProQuest Central Korea Health & Medical Research Collection Biological Science Collection ProQuest Central (New) ProQuest Medical Library (Alumni) ProQuest Biological Science Collection ProQuest One Academic Eastern Edition ProQuest Hospital Collection Health Research Premium Collection (Alumni) Biological Science Database ProQuest SciTech Collection ProQuest Hospital Collection (Alumni) ProQuest Health & Medical Complete ProQuest Medical Library ProQuest One Academic UKI Edition ProQuest One Academic ProQuest One Academic (New) ProQuest Central (Alumni) MEDLINE - Academic |
| DatabaseTitleList | Publicly Available Content Database MEDLINE - Academic |
| Database_xml | – sequence: 1 dbid: DOA name: DOAJ Directory of Open Access Journals url: https://www.doaj.org/ sourceTypes: Open Website – sequence: 2 dbid: PIMPY name: Publicly Available Content Database url: http://search.proquest.com/publiccontent sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1756-994X |
| EndPage | 16 |
| ExternalDocumentID | oai_doaj_org_article_e7517b7792c7450392b54b67bde9ca87 PMC10507925 A765840662 10_1186_s13073_023_01223_1 |
| GeographicLocations | Australia |
| GeographicLocations_xml | – name: Australia |
| GrantInformation_xml | – fundername: Bioplatforms Australia – fundername: QIMR Berghofer Medical Research Institute funderid: http://dx.doi.org/10.13039/100013103 – fundername: QIMR Berghofer Alisa Zinns PhD Scholarship – fundername: UQ Research Training Tuition Fee Offset – fundername: Medical Research Future Fund – fundername: National Health and Medical Research Council grantid: 1113531; 2000001; APP1139071; APP177524 funderid: http://dx.doi.org/10.13039/501100000925 – fundername: Cancer Council NSW Strategic Research Partnership Grant grantid: SRP 13-02 – fundername: Australian Government Research Training Program (RTP) Scholarship – fundername: ; – fundername: ; grantid: SRP 13-02 – fundername: ; grantid: 1113531; 2000001; APP1139071; APP177524 |
| GroupedDBID | --- 0R~ 2WC 53G 5VS 7X7 88E 8FE 8FH 8FI 8FJ AAFWJ AAJSJ AASML ABDBF ABUWG ACGFS ACJQM ACUHS ADUKV AENEX AFKRA AFPKN AHBYD AHYZX ALMA_UNASSIGNED_HOLDINGS AMKLP AOIAM BBNVY BENPR BHPHI BMC BPHCQ BVXVI C6C CCPQU DIK E3Z EBD EBLON EBS ESX FYUFA GROUPED_DOAJ GX1 HCIFZ HMCUK HYE IAO IHR IHW INH INR ITC KQ8 LK8 M1P M7P MK0 M~E O5R O5S OK1 PGMZT PHGZM PHGZT PIMPY PJZUB PPXIY PQGLB PQQKQ PROAC PSQYO PUEGO RBZ ROL RPM RSV SBL SOJ TUS UKHRP AAYXX AFFHD CITATION ALIPV 3V. 7XB 8FK AZQEC DWQXO GNUQQ K9. PKEHL PQEST PQUKI PRINS 7X8 5PM |
| ID | FETCH-LOGICAL-c616t-3fc56c41d5a6385d5ede54aabd5de81e876c4651d0f98378fed790355f5214d23 |
| IEDL.DBID | RSV |
| ISICitedReferencesCount | 10 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=001066969100001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 1756-994X |
| IngestDate | Fri Oct 03 12:39:36 EDT 2025 Tue Nov 04 02:06:14 EST 2025 Wed Oct 01 14:54:53 EDT 2025 Tue Oct 14 12:41:16 EDT 2025 Tue Nov 11 11:15:25 EST 2025 Tue Nov 04 18:39:14 EST 2025 Thu May 22 21:20:40 EDT 2025 Sat Nov 29 06:05:15 EST 2025 Tue Nov 18 21:50:34 EST 2025 Sat Sep 06 07:28:01 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 1 |
| Keywords | Variants Diagnostic testing Familial cancer Genetics Health economics Whole-genome sequencing |
| Language | English |
| License | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c616t-3fc56c41d5a6385d5ede54aabd5de81e876c4651d0f98378fed790355f5214d23 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 |
| ORCID | 0000-0002-3950-2476 0000-0002-6877-8906 0000-0001-5034-5996 |
| OpenAccessLink | https://link.springer.com/10.1186/s13073-023-01223-1 |
| PMID | 37723522 |
| PQID | 2877499973 |
| PQPubID | 2040231 |
| PageCount | 16 |
| ParticipantIDs | doaj_primary_oai_doaj_org_article_e7517b7792c7450392b54b67bde9ca87 pubmedcentral_primary_oai_pubmedcentral_nih_gov_10507925 proquest_miscellaneous_2866378021 proquest_journals_2877499973 gale_infotracmisc_A765840662 gale_infotracacademiconefile_A765840662 gale_healthsolutions_A765840662 crossref_citationtrail_10_1186_s13073_023_01223_1 crossref_primary_10_1186_s13073_023_01223_1 springer_journals_10_1186_s13073_023_01223_1 |
| PublicationCentury | 2000 |
| PublicationDate | 2023-09-19 |
| PublicationDateYYYYMMDD | 2023-09-19 |
| PublicationDate_xml | – month: 09 year: 2023 text: 2023-09-19 day: 19 |
| PublicationDecade | 2020 |
| PublicationPlace | London |
| PublicationPlace_xml | – name: London |
| PublicationTitle | Genome medicine |
| PublicationTitleAbbrev | Genome Med |
| PublicationYear | 2023 |
| Publisher | BioMed Central BioMed Central Ltd Springer Nature B.V BMC |
| Publisher_xml | – name: BioMed Central – name: BioMed Central Ltd – name: Springer Nature B.V – name: BMC |
| References | T Derrien (1223_CR23) 2012; 7 AC Lionel (1223_CR42) 2018; 20 NM Ioannidis (1223_CR29) 2016; 99 AL Cirino (1223_CR43) 2017; 10 D Eratne (1223_CR32) 2021; 420 A Abyzov (1223_CR22) 2011; 21 T Rausch (1223_CR21) 2012; 28 P Lichtenstein (1223_CR1) 2000; 343 Y Sun (1223_CR44) 2021; 14 Australian Institute of Health and Welfare (1223_CR40) 2021 D Canson (1223_CR48) 2020; 41 H Li (1223_CR15) 2009; 25 1223_CR26 RL Collins (1223_CR25) 2020; 581 S Norris (1223_CR41) 2022; 13 1223_CR14 G Mitchell (1223_CR9) 2013; 9 1223_CR51 W McLaren (1223_CR18) 2016; 17 JM Ellingford (1223_CR49) 2022; 14 M Kircher (1223_CR31) 2014; 46 MJ Landrum (1223_CR19) 2018; 46 X Guo (1223_CR5) 2018; 27 E Tudini (1223_CR50) 2023; 60 LG Gordon (1223_CR33) 2020; 20 S Kundu (1223_CR35) 2009; 8 1223_CR45 PA Harris (1223_CR10) 2009; 42 A McKenna (1223_CR16) 2010; 20 B Trost (1223_CR24) 2018; 102 KL Huang (1223_CR3) 2018; 173 IAEM van Belzen (1223_CR47) 2021; 5 MC Southey (1223_CR36) 2010; 12 GM Gould (1223_CR46) 2018; 19 AJ Robertson (1223_CR8) 2022; 24 M Martin (1223_CR13) 2011; 17 E Tudini (1223_CR12) 2021; 58 H Thorvaldsdóttir (1223_CR27) 2013; 14 Y Choi (1223_CR30) 2015; 31 Z Stark (1223_CR52) 2019; 105 1223_CR34 R Kamps (1223_CR4) 2017; 18 KS Kassahn (1223_CR17) 2013; 8 T Suzuki (1223_CR6) 2014; 59 N Rahman (1223_CR2) 2014; 505 J Li (1223_CR38) 2016; 98 ER Thompson (1223_CR37) 2015; 17 NB Tan (1223_CR7) 2020; 8 M Marabelli (1223_CR39) 2017; 56 KJ Karczewski (1223_CR20) 2020; 581 PA Harris (1223_CR11) 2019; 95 S Richards (1223_CR28) 2015; 17 |
| References_xml | – volume: 21 start-page: 974 issue: 6 year: 2011 ident: 1223_CR22 publication-title: Genome Res doi: 10.1101/gr.114876.110 – ident: 1223_CR26 doi: 10.1093/bioinformatics/btq033 – volume: 8 start-page: 1400 issue: 12 year: 2009 ident: 1223_CR35 publication-title: DNA Repair doi: 10.1016/j.dnarep.2009.09.009 – volume: 505 start-page: 302 issue: 7483 year: 2014 ident: 1223_CR2 publication-title: Nature doi: 10.1038/nature12981 – volume: 581 start-page: 444 issue: 7809 year: 2020 ident: 1223_CR25 publication-title: Nature doi: 10.1038/s41586-020-2287-8 – volume: 31 start-page: 2745 issue: 16 year: 2015 ident: 1223_CR30 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btv195 – volume: 56 start-page: 846 issue: 12 year: 2017 ident: 1223_CR39 publication-title: Genes Chromosom Cancer doi: 10.1002/gcc.22488 – volume: 105 start-page: 7 issue: 1 year: 2019 ident: 1223_CR52 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2019.06.003 – volume: 17 start-page: 405 issue: 5 year: 2015 ident: 1223_CR28 publication-title: Genet Med doi: 10.1038/gim.2015.30 – volume: 5 start-page: 15 issue: 1 year: 2021 ident: 1223_CR47 publication-title: NPJ Precis Oncol doi: 10.1038/s41698-021-00155-6 – volume: 46 start-page: 310 issue: 3 year: 2014 ident: 1223_CR31 publication-title: Nat Genet doi: 10.1038/ng.2892 – volume-title: Health system expenditure on cancer and other neoplasms in Australia, 2015–16. Cancer series no. 131. Cat. no. CAN 142 year: 2021 ident: 1223_CR40 – volume: 95 start-page: 103208 year: 2019 ident: 1223_CR11 publication-title: J Biomed Inform doi: 10.1016/j.jbi.2019.103208 – ident: 1223_CR34 – volume: 59 start-page: 649 issue: 12 year: 2014 ident: 1223_CR6 publication-title: J Hum Genet doi: 10.1038/jhg.2014.88 – volume: 173 start-page: 355 issue: 2 year: 2018 ident: 1223_CR3 publication-title: Cell doi: 10.1016/j.cell.2018.03.039 – volume: 581 start-page: 434 issue: 7809 year: 2020 ident: 1223_CR20 publication-title: Nature doi: 10.1038/s41586-020-2308-7 – volume: 58 start-page: 853 issue: 12 year: 2021 ident: 1223_CR12 publication-title: J Med Genet doi: 10.1136/jmedgenet-2020-107140 – volume: 19 start-page: 176 issue: 1 year: 2018 ident: 1223_CR46 publication-title: BMC Med Genet doi: 10.1186/s12881-018-0691-9 – volume: 24 start-page: 798 issue: 4 year: 2022 ident: 1223_CR8 publication-title: Genet Med doi: 10.1016/j.gim.2021.12.011 – volume: 8 start-page: e74380 issue: 11 year: 2013 ident: 1223_CR17 publication-title: PLoS One doi: 10.1371/journal.pone.0074380 – volume: 12 start-page: R109 issue: 6 year: 2010 ident: 1223_CR36 publication-title: Breast Cancer Res doi: 10.1186/bcr2796 – volume: 27 start-page: 853 issue: 5 year: 2018 ident: 1223_CR5 publication-title: Hum Mol Genet doi: 10.1093/hmg/ddy005 – volume: 46 start-page: D1062 issue: D1 year: 2018 ident: 1223_CR19 publication-title: Nucleic Acids Res doi: 10.1093/nar/gkx1153 – volume: 28 start-page: i333 issue: 18 year: 2012 ident: 1223_CR21 publication-title: Bioinformatics doi: 10.1093/bioinformatics/bts378 – volume: 42 start-page: 377 issue: 2 year: 2009 ident: 1223_CR10 publication-title: J Biomed Inform doi: 10.1016/j.jbi.2008.08.010 – volume: 14 start-page: 102 issue: 1 year: 2021 ident: 1223_CR44 publication-title: BMC Med Genomics doi: 10.1186/s12920-021-00948-5 – volume: 98 start-page: 830 issue: 5 year: 2016 ident: 1223_CR38 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2016.03.001 – ident: 1223_CR51 – volume: 17 start-page: 122 issue: 1 year: 2016 ident: 1223_CR18 publication-title: Genome Biol doi: 10.1186/s13059-016-0974-4 – volume: 10 start-page: e001768 issue: 5 year: 2017 ident: 1223_CR43 publication-title: Circ Cardiovasc Genet. doi: 10.1161/CIRCGENETICS.117.001768 – volume: 343 start-page: 78 issue: 2 year: 2000 ident: 1223_CR1 publication-title: N Engl J Med doi: 10.1056/NEJM200007133430201 – volume: 18 start-page: 308 issue: 2 year: 2017 ident: 1223_CR4 publication-title: Int J Mol Sci doi: 10.3390/ijms18020308 – volume: 25 start-page: 2078 issue: 16 year: 2009 ident: 1223_CR15 publication-title: Bioinformatics doi: 10.1093/bioinformatics/btp352 – volume: 17 start-page: 3 issue: 1 year: 2011 ident: 1223_CR13 publication-title: EMBnet J doi: 10.14806/ej.17.1.200 – volume: 13 start-page: 503 issue: 5 year: 2022 ident: 1223_CR41 publication-title: J Community Genet doi: 10.1007/s12687-021-00551-2 – volume: 14 start-page: 178 issue: 2 year: 2013 ident: 1223_CR27 publication-title: Brief Bioinform doi: 10.1093/bib/bbs017 – volume: 8 start-page: e1508 issue: 11 year: 2020 ident: 1223_CR7 publication-title: Mol Genet Genomic Med doi: 10.1002/mgg3.1508 – volume: 20 start-page: 435 issue: 4 year: 2018 ident: 1223_CR42 publication-title: Genet Med doi: 10.1038/gim.2017.119 – volume: 41 start-page: 1705 issue: 10 year: 2020 ident: 1223_CR48 publication-title: Hum Mutat doi: 10.1002/humu.24074 – volume: 9 start-page: 100 issue: S3 year: 2013 ident: 1223_CR9 publication-title: Asia Pac J Clin Oncol doi: 10.1111/ajco.12145 – volume: 99 start-page: 877 issue: 4 year: 2016 ident: 1223_CR29 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2016.08.016 – ident: 1223_CR14 – volume: 20 start-page: 492 issue: 1 year: 2020 ident: 1223_CR33 publication-title: BMC Health Serv Res doi: 10.1186/s12913-020-05318-y – volume: 7 issue: 1 year: 2012 ident: 1223_CR23 publication-title: PLoS ONE doi: 10.1371/journal.pone.0030377 – volume: 420 start-page: 117260 year: 2021 ident: 1223_CR32 publication-title: J Neurol Sci doi: 10.1016/j.jns.2020.117260 – volume: 60 start-page: 609 year: 2023 ident: 1223_CR50 publication-title: J Med Genet doi: 10.1136/jmg-2022-108808 – volume: 20 start-page: 1297 issue: 9 year: 2010 ident: 1223_CR16 publication-title: Genome Res doi: 10.1101/gr.107524.110 – volume: 102 start-page: 142 issue: 1 year: 2018 ident: 1223_CR24 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2017.12.007 – volume: 17 start-page: 111 issue: 1 year: 2015 ident: 1223_CR37 publication-title: Breast Cancer Res doi: 10.1186/s13058-015-0627-7 – ident: 1223_CR45 doi: 10.1002/humu.24468 – volume: 14 start-page: 73 issue: 1 year: 2022 ident: 1223_CR49 publication-title: Genome medicine doi: 10.1186/s13073-022-01073-3 |
| SSID | ssj0064247 |
| Score | 2.4005637 |
| Snippet | Background
Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families... Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families... Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may carry... BackgroundMany families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These families may... Abstract Background Many families and individuals do not meet criteria for a known hereditary cancer syndrome but display unusual clusters of cancers. These... |
| SourceID | doaj pubmedcentral proquest gale crossref springer |
| SourceType | Open Website Open Access Repository Aggregation Database Enrichment Source Index Database Publisher |
| StartPage | 1 |
| SubjectTerms | Bioinformatics Biomedical and Life Sciences Biomedicine Cancer Cancer Research Cohort analysis Datasets Development and progression Diagnosis Diagnostic testing Disease susceptibility DNA sequencing Economic analysis Familial cancer Financial analysis Gene loci Genetic aspects Genetic research Genetic screening Genetic testing Genetics Genomes Genomics Genotype & phenotype Health economics Human Genetics Medical research Medicine/Public Health Melanoma Metabolomics Nucleotide sequencing Oncology, Experimental Systems Biology Variants Whole genome sequencing |
| SummonAdditionalLinks | – databaseName: DOAJ Directory of Open Access Journals dbid: DOA link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3Nb9UwDI_QBBIXxKcoDAgSEgeI1rw2TXIciIkDmjgA2i3Kp5gE7fTaN7Tbzpz5C_lLsNP2QZmAC9cXt32xHceW7Z8JeWJ9lCLoyBrrS1aHUjGVVok1pdVJq-BdzuB_eCMPD9XRkX77y6gvrAkb4YFHxu3Bq7h0UuqVl7Uo4Tp3onaNdCFqb1XuIwevZw6mRhsMTnUt5xYZ1ez1HFWZwf3EMJVUMb64hjJa_0WbfLFO8rdkab6DDq6Ta5PzSPfHP32DXIrtTXJlHCd5dot8BZnTudWRgkahi01tG6jv-qGnXaJfcBwuQ2DWz5FOZdTwKTp0NETMJ1CParCm_abPBS9ufMkphNRYMfP9_JuluQiRYdqZwibmXk2Ks3bXA82AtbfJ-4NX716-ZtOsBeYb3gysSl40vuZBWDiRIogYoqitdUGEqHgEo-lxbHooQYKVVCkGqUtwVhLc_3VYVXfITtu18S6hgjdJBm1Ly6u6Ft4KpwNETSnJxF3SBeEz642fgMhxHsYnkwMS1ZhRXAbEZbK4DC_Is-0zJyMMx1-pX6BEt5QIoZ1_AMUyk2KZfylWQR6hPpixH3VrCMy-RKcNgfML8jRToCmADXg7dTQAGxBUa0G5u6CEI-yXy7POmcmE9AZCWYnhqKwK8ni7jE9iWVwbuw3SgMMoFfhpBVELXV3sfbnSHn_MMOLgWZewe1GQ57Na__z6n5l7738w9z65usqnUTOud8nOsN7EB-SyPx2O-_XDfJZ_ADalTyA priority: 102 providerName: Directory of Open Access Journals – databaseName: Biological Science Database dbid: M7P link: http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV09b9YwELaggNSFb9RAASMhMYDV-E0c2xMqiIoBVR0AdbMcf5RKkJQ3eYvYmJn5hfwS7pzkrUJFF9b4kvji586P4_MdIU-tC1J4HVhlXc5Knyum4iKyKrc6auVdnXbwP76T-_vq8FAfjD_cujGscvKJyVH71uE_8h1g9hLZuSxennxlWDUKd1fHEhqXyRXMklCk0L2DyRMDtS7ldFBGVTsdR0AzmKUYbigVjM8mo5Sz_7xnPh8t-deWaZqJ9m78rw43yfWRg9LdATS3yKXQ3CbXhqqU3--QnwAdOp2YpABMZOrUNp66tus72kb6DavqMszv-iXQMRob-kr7lvqA2xLUIZqWtFt1KW6mHh5yCitzDLz5_eOXpSmWkWHfKOgxHfmkWLJ32dOU9_Yu-bD35v3rt2ws2cBcxaueFdGJypXcCwuGLbwIPojS2toLHxQP4HsdVl_3OQChkCoGL3UOnCcCjSj9orhHNpq2CVuECl5F6bXNLS_KUjgrau1h8RWjjLyOOiN8GjvjxnzmWFbjs0nrGlWZYbwNjLdJ4214Rp6v7zkZsnlcKP0KIbGWxEzc6UK7PDKjYRuAOpe1lHrhZClyoJu1KOtK1j5oZ5XMyGMElBmOta79idmVyP0w_35GniUJ9CiggLPjwQj4DJibaya5PZMET-DmzRPszOiJOnOGuYw8WTfjnRhd14R2hTLAO6UCupcRNQP7TPd5S3P8KWUjB4Keg_YiIy8muzh7-78_7v2LO_uAbC6SoWrG9TbZ6Jer8JBcdaf9cbd8lMz8D51MXf4 priority: 102 providerName: ProQuest |
| Title | The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study |
| URI | https://link.springer.com/article/10.1186/s13073-023-01223-1 https://www.proquest.com/docview/2877499973 https://www.proquest.com/docview/2866378021 https://pubmed.ncbi.nlm.nih.gov/PMC10507925 https://doaj.org/article/e7517b7792c7450392b54b67bde9ca87 |
| Volume | 15 |
| WOSCitedRecordID | wos001066969100001&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVADU databaseName: BioMed Central Open Access Free customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: RBZ dateStart: 20090101 isFulltext: true titleUrlDefault: https://www.biomedcentral.com/search/ providerName: BioMedCentral – providerCode: PRVAON databaseName: DOAJ Directory of Open Access Journals customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: DOA dateStart: 20090101 isFulltext: true titleUrlDefault: https://www.doaj.org/ providerName: Directory of Open Access Journals – providerCode: PRVHPJ databaseName: ROAD: Directory of Open Access Scholarly Resources customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: M~E dateStart: 20090101 isFulltext: true titleUrlDefault: https://road.issn.org providerName: ISSN International Centre – providerCode: PRVPQU databaseName: Biological Science Database customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: M7P dateStart: 20150101 isFulltext: true titleUrlDefault: http://search.proquest.com/biologicalscijournals providerName: ProQuest – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: 7X7 dateStart: 20150101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: BENPR dateStart: 20150101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: Publicly Available Content Database customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: PIMPY dateStart: 20150101 isFulltext: true titleUrlDefault: http://search.proquest.com/publiccontent providerName: ProQuest – providerCode: PRVAVX databaseName: SpringerLINK Contemporary 1997-Present customDbUrl: eissn: 1756-994X dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0064247 issn: 1756-994X databaseCode: RSV dateStart: 20090101 isFulltext: true titleUrlDefault: https://link.springer.com/search?facet-content-type=%22Journal%22 providerName: Springer Nature |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELagBYkLb0SgLEZC4gAWySaO7WOLWoEEq1WBajlZjh9QCRK0yRZx48yZX8gvYcabLAoFJLjkEI-TtfPNeGbnRch9Y73gTnlWGpuywqWSyTANrEyNCko6W0UP_tFzMZvJxULN-6Swdoh2H1ySUVJHtpbl4zZDODI4Yxi6g3IGNs82HHcS2fHw5dEgf0GhLsSQHvPbeaMjKFbqPy2PT8dI_uIojefPwaX_--WXycVe36S7a4BcIWd8fZWcX3eg_HyNfAWY0CE7kgIIUSunpnbUNm3X0ibQT9hBl2Et1w-e9pHX8HbaNdR5dEFQi8hZ0nbVxhiZav2QE7DCMcjm-5dvhsa4RYaeagprH9I7KbbnXXY01ri9Tl4f7L968pT17RmYLbOyY3mwvLRF5rgBJuaOe-d5YUzluPMy8yBnLXZadyl89FzI4J1QKeg3AVSGwk3zG2Srbmp_k1CelUE4ZVKT5UXBreGVcmBohSBCVgWVkGz4Ytr2tcuxhcZ7HW0YWer1HmvYYx33WGcJebiZ83FdueOv1HsIhA0lVt2ON5rlW90zsQZYZ6ISQk2tKHgKqmXFi6oUlfPKGikSchdhpNcprBvZoXcF6nlYaz8hDyIFSg9YgDV9EgRsA9bhGlHujCiB6-14eICq7qVOq8H6FWjBijwh9zbDOBMj6WrfrJAGdEwhQbVLiBxBfLT28Uh9_C5WHgdlPIXV84Q8GpD-8-1_3txb_0Z-m1yYRmZRLFM7ZKtbrvwdcs6edMftckLOioWIVzkh23v7s_nhJP6TMsG43Tncmz97MX8ziULhB273WqE |
| linkProvider | Springer Nature |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMw1V1Lb9QwELaqAoILb0SgUCOBOIDVeDeO4wNC5VG16rLqoaDejGM7UAmSssm26o0zZ34HP4pfwoyTbBUqeuuB63qSjScz38zE8yDksbFeCqc8S42NWeLijGXFqGBpbFShMmfzcIL_YSKn02xvT-0skV99LQymVfaYGIDaVRa_ka-BZy_RO5fjlwffGE6NwtPVfoRGKxbb_vgIQrb6xdYbeL9PRqONt7uvN1k3VYDZlKcNGxdWpDbhThiQPeGEd14kxuROOJ9xD_BgcUC4i-FZxzIrvJMqBrNcgKVLHDY6AMi_AG7EKAupgjs98oMrn8i-MCdL12qOCsTAKjI8wBozPjB-YUbAaUtwOjvzryPaYPk2rv1vPLtOrnY-Nl1vleIGWfLlTXKpnbp5fIv8ANWgfUUoBcXDSISa0lFb1U1Nq4Ie4dRghv1rv3raZZsDb2hTUefx2IVa1JYZred1yAvK25scGtDnsql_f_9paMjVZMgLCnzrS1opjiSeNTT09b1N3p8LI-6Q5bIq_V1CBU8L6ZSJDR8nibBG5MpBcFkUsuB5oSLCe1nRtuvXjmNDvugQt2WpbuVLg3zpIF-aR-TZ4pqDtlvJmdSvUAQXlNhpPPxQzT7pDrg0qDKXuZRqZGUiYnCnc5HkqcydV9ZkMiKrKMC6Ldtd4KVel-jb4nyBiDwNFIiYsAFrusIPYAP2HhtQrgwoAenscLkXc90hba1PZDwijxbLeCVmD5a-miMN-NUyA3c2ItlAuQZ7H66U-59Dt3UIQGLYvYjI814PT_7938y9d_bDrpLLm7vvJnqyNd2-T66MAkgoxtUKWW5mc_-AXLSHzX49exgghpKP562ffwBUP7rm |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV1Lb9QwELZQeYgLb0SgUCMhcQCrySaO7WN5rEBUq0pA1Zvl-FEqQVJtskXcOHPmF_JLmHGShVBAQlzX49315PPkG82LkAfGesGd8qw0NmWFSyWTYRZYmRoVlHS2ihH8_V2xWMiDA7X3UxV_zHYfQ5J9TQN2aaq77WMX-isuy-02Q2gyeN8wDA3lDPyfswUODUJ__fX-aIuBXBdiLJX57b7J6yh27T9tm0_nS_4SNI3vovnl_z_FFXJp4KF0pwfOVXLG19fI-X4y5afr5AvAh45VkxTAiWydmtpR27RdS5tAP-JkXYY9Xj94OmRkwz-hXUOdx9AEtYioJW1XbcydqfovOQHvHJNvvn3-amjMZ2QYwaagh7Hsk-LY3mVHY-_bG-Tt_Pmbpy_YMLaB2TIrO5YHy0tbZI4buNzcce88L4ypHHdeZh7sr8UJ7C4FMORCBu-ESoH3BKAShZvlN8lG3dT-FqE8K4NwyqQmy4uCW8Mr5cABC0GErAoqIdn49LQdeprjaI33Ovo2stS9jjXoWEcd6ywhj9Z7jvuOHn-VfoKgWEtiN-74QbM81MPl1gD3TFRCqJkVBU-Bcla8qEpROa-skSIhWwgp3Ze2rm2K3hHI_7AHf0IeRgm0KnAAa4biCFAD9ueaSG5OJMEa2OnyCFs9WKNWg1cs0LMVeULur5dxJ2bY1b5ZoQxwTyGB8iVETuA-Oft0pT56FzuSA0lP4fQ8IY9H1P_49T8r9_a_iW-RC3vP5nr35eLVHXJxFu-NYpnaJBvdcuXvknP2pDtql_eiDfgOA6BfZA |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=The+clinical+utility+and+costs+of+whole-genome+sequencing+to+detect+cancer+susceptibility+variants%E2%80%93a+multi-site+prospective+cohort+study&rft.jtitle=Genome+medicine&rft.au=Davidson%2C+Aimee+L&rft.au=Dressel%2C+Uwe&rft.au=Norris%2C+Sarah&rft.au=Canson%2C+Daffodil+M&rft.date=2023-09-19&rft.pub=BioMed+Central+Ltd&rft.issn=1756-994X&rft.eissn=1756-994X&rft.volume=15&rft.issue=1&rft_id=info:doi/10.1186%2Fs13073-023-01223-1&rft.externalDocID=A765840662 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1756-994X&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1756-994X&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1756-994X&client=summon |