Výsledky vyhledávání - "Genome informatics"

Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters

Autoři: David Gremmelspacher Johannes Gawron Barbara M. Szczerba a další

Zdroj: Nat Genet
Nature Genetics, 57 (6)

Témata: Breast cancer, Biowissenschaften, Biologie, Circulating tumor cell, Brief Communication, Genome informatics

Popis souboru: application/application/pdf

Přístupová URL adresa: http://hdl.handle.net/20.500.11850/739385

Gene-level analysis of core carbohydrate metabolism across the Enterobacteriaceae pan-genome

Autoři: Nicolas Näpflin Christopher Schubert Lukas Malfertheiner a další

Zdroj: Communications Biology. 8

Témata: Genome informatics, Microbial genetics

Soil microbial responses to multiple global change factors as assessed by metagenomics

Autoři: Álvaro Rodríguez del Río Stefan Scheu Matthias C. Rillig a další

Přispěvatelé: Álvaro Rodríguez del Río Stefan Scheu Matthias C. Rillig a další

Zdroj: Nat Commun
Nature Communications, Vol 16, Iss 1, Pp 1-13 (2025)

Témata: Microbial ecology, Biowissenschaften, Biologie, Science, Climate-change ecology, Community ecology, Genome informatics, Article

Přístupová URL adresa: https://doaj.org/article/191e77545531404381073f4180df4e0d
https://resolver.sub.uni-goettingen.de/purl?gro-2/149396

Strand-resolved mutagenicity of DNA damage and repair

Autoři: Craig J. Anderson Lana Talmane Juliet Luft a další

Přispěvatelé: Craig J. Anderson Lana Talmane Juliet Luft a další

Zdroj: Nature

Témata: DNA Replication, Alkylation, DNA Repair, Transcription, Genetic, Ultraviolet Rays, DNA adducts, DNA, DNA-Directed DNA Polymerase, Genome informatics, Article, Cell Line, Nucleotide excision repair, Mice, DNA Adducts, Mutagenesis, Neoplasms, Mutation, Cancer genomics, Animals, Humans, Translesion synthesis, DNA Damage

Popis souboru: application/pdf; application/zip; text/xml

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38867042
https://www.repository.cam.ac.uk/handle/1810/369945
https://doi.org/10.1038/s41586-024-07490-1
https://www.repository.cam.ac.uk/handle/1810/372636
https://doi.org/10.1038/s41586-024-07490-1

The complex polyploid genome architecture of sugarcane

Autoři: Healey, A. Garsmeur, O. Lovell, J. a další

Přispěvatelé: Healey, A. Garsmeur, O. Lovell, J. a další

Zdroj: Nature
Nature, vol 628, iss 8009

Témata: Saccharum (mesh), Agricultural Biotechnology, 3004 Crop and Pasture Production (for-2020), General Science & Technology (science-metrix), 3105 Genetics (for-2020), rust-resistance gene, [SDV.GEN.GPL] Life Sciences [q-bio]/Genetics/Plants genetics, Reference Standards (mesh), 0303 health sciences, Saccharum officinarum, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Reference Standards, Polyploidy in plants, annotation, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Zero Hunger, Plant Breeding (mesh), Veterinary and Food Sciences, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, 30 Agricultural, Article, [SDV.GEN.GPL]Life Sciences [q-bio]/Genetics/Plants genetics, 03 medical and health sciences, 2 Zero Hunger (sdg), Genetic, polyploïdie, Genetics, [SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], [SDV.SA.AEP]Life Sciences [q-bio]/Agricultural sciences/Agriculture, Agricultural, 31 Biological Sciences (for-2020), Genetics (rcdc), génome, Plant, DNA, sequence, 15. Life on land, Human Genome (rcdc), Polyploidy (mesh), Genome evolution, Plant Breeding, Genetic (mesh), Hybridization, Genetic, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], amélioration des plantes, 0301 basic medicine, carte génétique, Genome informatics, F30 - Génétique et amélioration des plantes, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], 2. Zero hunger, Genome, [SDV.SA.AEP] Life Sciences [q-bio]/Agricultural sciences/Agriculture, economy and politics, phytogénétique, Agriculture, 3001 Agricultural Biotechnology (for-2020), Biological Sciences, Saccharum, dissection, bru1, Haplotypes (mesh), Genome, Plant, Biotechnology, Crop and Pasture Production, Plant genetics, DNA, Plant, General Science & Technology, Biotechnology (rcdc), Chromosomes, diversité génétique (comme ressource), Chromosomes, Plant, génomique, Polyploidy, Veterinary and Food Sciences (for-2020), ssr markers, Hybridization, economy and politics, Saccharum spontaneum, Molecular Biology/Genomics [q-bio.GN], Biotechnology (mesh), cultivar saccharum spp, Human Genome, 3008 Horticultural Production (for-2020), prediction, stability, Horticultural Production, Haplotypes, officinarum, Plant (mesh)

Popis souboru: text; application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38538783
https://hdl.handle.net/11104/0354593
http://agritrop.cirad.fr/609082/7/609082.pdf
http://agritrop.cirad.fr/609082/
https://escholarship.org/uc/item/8dh7k2k4
https://escholarship.org/content/qt8dh7k2k4/qt8dh7k2k4.pdf

Detection of mosaic and population-level structural variants with Sniffles2

Autoři: Moritz Smolka Luis F. Paulin Christopher M. Grochowski a další

Zdroj: Nat Biotechnol

Témata: 0301 basic medicine, Medical Sciences, 0206 medical engineering, 02 engineering and technology, Genome informatics, Article, Biomedical Informatics, 03 medical and health sciences, Genetics, Medical Specialties, Medicine and Health Sciences, and Immunity, Humans, Cancer, Biological Phenomena, Mosaicism, Cell Phenomena, Life Sciences, High-Throughput Nucleotide Sequencing, Genetics and Genomics, DNA, Sequence Analysis, DNA, Medical Molecular Biology, Genomic Structural Variation, Sequence Analysis, Medical Genetics, Software

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38168980
https://discovery-pp.ucl.ac.uk/id/eprint/10185347/

Functional and evolutionary significance of unknown genes from uncultivated taxa

Autoři: Álvaro Rodríguez del Río Joaquín Giner-Lamia Carlos P. Cantalapiedra a další

Přispěvatelé: Álvaro Rodríguez del Río Joaquín Giner-Lamia Carlos P. Cantalapiedra a další

Zdroj: Nature
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Nature, 626 (7998)

Témata: 0301 basic medicine, Genome informatics, Article, Genes, Archaeal, Evolution, Molecular, 03 medical and health sciences, Cell Movement, Ecosystem, Phylogeny, 0303 health sciences, Bacteria, Environmental microbiology, Reproducibility of Results, Genomics, Archaea, Molecular Processes and Therapies [Topic 2], Knowledge, Cardiovascular and Metabolic Diseases, Genes, Bacterial, Multigene Family, Metagenomics, Colorectal Neoplasms, Antimicrobial Peptides, Biomarkers

Popis souboru: application/pdf; application/application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38109938
https://api.elsevier.com/content/abstract/scopus_id/85183890935
http://hdl.handle.net/10261/356703
https://edoc.mdc-berlin.de/id/eprint/23953/1/23953oa.pdf
http://hdl.handle.net/20.500.11850/653198

De novo annotation reveals transcriptomic complexity across the hexaploid wheat pan-genome

Autoři: White, Benjamen Lux, Thomas Rusholme-Pilcher, Rachel a další

Témata: Gene expression, Genome informatics, Plant breeding, Transcriptomics

Popis souboru: application/pdf

Relation: https://www.kyoto-u.ac.jp/ja/research-news/2025-10-08; https://hdl.handle.net/2433/297452; Nature Communications; 16; 8538

Dostupnost: https://hdl.handle.net/2433/297452

Gene-level analysis of core carbohydrate metabolism across the Enterobacteriaceae pan-genome

Autoři: Näpflin, Nicolas Schubert, Christopher id_orcid:0 000-0002-7921-1470 a další

Zdroj: Communications Biology, 8 (1)

Témata: Genome informatics, Microbial genetics

Popis souboru: application/application/pdf

Relation: info:eu-repo/grantAgreement/SNF/Projekte Lebenswissenschaften/192567; info:eu-repo/grantAgreement/SNF/NCCR (NFS)/-180575; https://hdl.handle.net/20.500.11850/783709

Dostupnost: https://hdl.handle.net/20.500.11850/783709
https://doi.org/10.3929/ethz-c-000783709

Phylogenetic inference reveals clonal heterogeneity in circulating tumor cell clusters

Autoři: Gremmelspacher, David Gawron, Johannes Szczerba, Barbara M. a další

Témata: Breast cancer, Genome informatics, Circulating tumor cell, ddc:570

Popis souboru: 19 Seiten; application/pdf

Dostupnost: https://refubium.fu-berlin.de/handle/fub188/48895
https://doi.org/10.17169/refubium-48618
https://doi.org/10.1038/s41588-025-02205-2

Soil microbial responses to multiple global change factors as assessed by metagenomics

Autoři: Río, Álvaro Rodríguez del Scheu, Stefan Rillig, Matthias C.

Témata: Climate-change ecology, Community ecology, Genome informatics, Microbial ecology, ddc:570

Popis souboru: 13 Seiten; application/pdf

Dostupnost: https://refubium.fu-berlin.de/handle/fub188/47784
https://doi.org/10.17169/refubium-47502
https://doi.org/10.1038/s41467-025-60390-4

Structural variation in 1,019 diverse humans based on long-read sequencing

Autoři: Schloissnig, Siegfried Sotelo-Fonseca, Jesus Emiliano Moreira Pinhal, Ricardo a další

Témata: Genome informatics, Genomics, Medical genetics, Structural variation

Popis souboru: application/pdf

Relation: Nature. 2025 Aug;644(8076):442-52; info:eu-repo/grantAgreement/EC/HE/101150006; info:eu-repo/grantAgreement/EC/H2020/713673; https://hdl.handle.net/10230/71442

Dostupnost: https://hdl.handle.net/10230/71442
https://doi.org/10.1038/s41586-025-09290-7

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report

Autoři: David Lagorce Emeline Lebreton Leslie Matalonga a další

Zdroj: Eur J Hum Genet
European journal of Human Genetics

Témata: JGM, Chromosome Mapping, Genomics, Genome informatics, Article, 3. Good health, Rare Diseases, Phenotype, Chromosome Mapping [MeSH], Genomics [MeSH], Rare Diseases/epidemiology [MeSH], Rare Diseases/genetics [MeSH], Humans [MeSH], 631/114/2785, Phenotype [MeSH], 692/699/375/2014, Rare Diseases/diagnosis [MeSH], article, Humans, Spinocerebellar ataxia

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37926714
https://repository.publisso.de/resource/frl:6518374

A draft human pangenome reference

Autoři: Wen-Wei Liao Mobin Asri Jana Ebler a další

Přispěvatelé: Wen-Wei Liao Mobin Asri Jana Ebler a další

Zdroj: Nature
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Nature (Basingstoke, Online) 617 (2023): 312–324. doi:10.1038/s41586-023-05896-x
info:cnr-pdr/source/autori:Liao W.-W.; Asri M.; Ebler J.; Doerr D.; Haukness M.; Hickey G.; Lu S.; Lucas J.K.; Monlong J.; Abel H.J.; Buonaiuto S.; Chang X.H.; Cheng H.; Chu J.; Colonna V.; Eizenga J.M.; Feng X.; Fischer C.; Fulton R.S.; Garg S.; Groza C.; Guarracino A.; Harvey W.T.; Heumos S.; Howe K.; Jain M.; Lu T.-Y.; Markello C.; Martin F.J.; Mitchell M.W.; Munson K.M.; Mwaniki M.N.; Novak A.M.; Olsen H.E.; Pesout T.; Porubsky D.; Prins P.; Sibbesen J.A.; Siren J.; Tomlinson C.; Villani F.; Vollger M.R.; Antonacci-Fulton L.L.; Baid G.; Baker C.A.; Belyaeva A.; Billis K.; Carroll A.; Chang P.-C.; Cody S.; Cook D.E.; Cook-Deegan R.M.; Cornejo O.E.; Diekhans M.; Ebert P.; Fairley S.; Fedrigo O.; Felsenfeld A.L.; Formenti G.; Frankish A.; Gao Y.; Garrison N.A.; Giron C.G.; Green R.E.; Haggerty L.; Hoekzema K.; Hourlier T.; Ji H.P.; Kenny E.E.; Koenig B.A.; Kolesnikov A.; Korbel J.O.; Kordosky J.; Koren S.; Lee H.J.; Lewis A.P.; Magalhaes H.; Marco-Sola S.; Marijon P.; McCartney A.; McDaniel J.; Mountcastle J.; Nattestad M.; Nurk S.; Olson N.D.; Popejoy A.B.; Puiu D.; Rautiainen M.; Regier A.A.; Rhie A.; Sacco S.; Sanders A.D.; Schneider V.A.; Schultz B.I.; Shafin K.; Smith M.W.; Sofia H.J.; Abou Tayoun A.N.; Thibaud-Nissen F.; Tricomi F.F.; Wagner J.; Walenz B.; Wood J.M.D.; Zimin A.V.; Bourque G.; Chaisson M.J.P.; Flicek P.; Phillippy A.M.; Zook J.M.; Eichler E.E.; Haussler D.; Wang T.; Jarvis E.D.; Miga K.H.; Garrison E.; Marschall T.; Hall I.M.; Li H.; Paten B./titolo:A draft human pangenome reference/doi:10.1038%2Fs41586-023-05896-x/rivista:Nature (Basingstoke, Online)/anno:2023/pagina_da:312/pagina_a:324/intervallo_pagine:312–324/volume:617
Liao, W W, Asri, M, Ebler, J, Doerr, D, Haukness, M, Hickey, G, Lu, S, Lucas, J K, Monlong, J, Abel, H J, Buonaiuto, S, Chang, X H, Cheng, H, Chu, J, Colonna, V, Eizenga, J M, Feng, X, Fischer, C, Fulton, R S, Garg, S, Groza, C, Guarracino, A, Harvey, W T, Heumos, S, Howe, K, Jain, M, Lu, T Y, Markello, C, Martin, F J, Mitchell, M W, Munson, K M, Mwaniki, M N, Novak, A M, Olsen, H E, Pesout, T, Porubsky, D, Prins, P, Sibbesen, J A, Sirén, J, Tomlinson, C, Villani, F, Vollger, M R, Antonacci-Fulton, L L, Baid, G, Baker, C A, Belyaeva, A, Billis, K, Carroll, A, Chang, P C, Cody, S, Cook, D E, Cook-Deegan, R M, Cornejo, O E, Diekhans, M, Ebert, P, Fairley, S, Fedrigo, O, Felsenfeld, A L, Formenti, G, Frankish, A, Gao, Y, Garrison, N A, Giron, C G, Green, R E, Haggerty, L, Hoekzema, K, Hourlier, T, Ji, H P, Kenny, E E, Koenig, B A, Kolesnikov, A, Korbel, J O, Kordosky, J, Koren, S, Lee, H J, Lewis, A P, Magalhães, H, Marco-Sola, S, Marijon, P, McCartney, A, McDaniel, J, Mountcastle, J, Nattestad, M, Nurk, S, Olson, N D, Popejoy, A B, Puiu, D, Rautiainen, M, Regier, A A, Rhie, A, Sacco, S, Sanders, A D, Schneider, V A, Schultz, B I, Shafin, K, Smith, M W, Sofia, H J, Abou Tayoun, A N, Thibaud-Nissen, F, Tricomi, F F, Wagner, J, Walenz, B, Wood, J M D, Zimin, A V, Bourque, G, Chaisson, M J P, Flicek, P, Phillippy, A M, Zook, J M, Eichler, E E, Haussler, D, Wang, T, Jarvis, E D, Miga, K H, Garrison, E, Marschall, T, Hall, I M, Li, H & Paten, B 2023, ' A draft human pangenome reference ', Nature, vol. 617, no. 7960, pp. 312-324 . https://doi.org/10.1038/s41586-023-05896-x
Nature, vol 617, iss 7960

Témata: Cancer Research, General Science & Technology, General Science & Technology (science-metrix), human pangenome, Human (mesh), Genome informatics, 3105 Genetics (for-2020), Article, Cohort Studies, Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica, Genome assembly algorithms, Medicine and Health Sciences, Genetics, 2.1 Biological and endogenous factors, Humans, Reference Standards (mesh), Genetic Variation (mesh), Alleles, Humans (mesh), 31 Biological Sciences (for-2020), Genome, Genetics (rcdc), Genome, Human, Cohort Studies (mesh), Generic health relevance (hrcs-hc), ICTS (Institute of Clinical and Translational Sciences), Genetic Variation, DNA, 2.1 Biological and endogenous factors (hrcs-rac), Sequence Analysis, DNA, Genomics, Biological Sciences, Reference Standards, 1.5 Resources and infrastructure (underpinning), Diploidy, 1.5 Resources and infrastructure (underpinning) (hrcs-rac), Haplotypes, Genomics (mesh), Alleles (mesh), Generic health relevance, DNA (mesh), Diploidy (mesh), Genes, Cells and Cell-Based Medicine [Topic 1], Sequence Analysis, Haplotypes (mesh), Human

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37165242
http://edoc.mdc-berlin.de/23354/1/23354oa.pdf
http://www.scopus.com/inward/record.url?eid=2-s2.0-85158007304&partnerID=q2rCbXpz
https://doi.org/10.1038/s41586-023-05896-x
https://hdl.handle.net/20.500.14243/460097
https://orbit.dtu.dk/en/publications/e92cb361-4a71-475b-b84c-89f07cafc8e7
https://ddd.uab.cat/record/285762
https://escholarship.org/uc/item/5hn600wf
https://escholarship.org/content/qt5hn600wf/qt5hn600wf.pdf

Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree

Autoři: David Dylus Adrian Altenhoff Sina Majidian a další

Zdroj: Nat Biotechnol
Nature biotechnology, vol. 42, no. 1, pp. 139-147
Nature Biotechnology, 42 (1)

Témata: Medical Sciences, Animals, Phylogeny, Sequence Analysis, Genomics/methods, Comparative genomics, Cell Phenomena, Life Sciences, Genetics and Genomics, Genomics, Genome informatics, Article, 3. Good health, Biomedical Informatics, Phylogenetics, Medical Molecular Biology, Medical Specialties, Medicine and Health Sciences, and Immunity, Medical Genetics, Biological Phenomena

Popis souboru: application/pdf; application/application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/37081138
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_AB990544B7BE6
https://serval.unil.ch/notice/serval:BIB_AB990544B7BE
https://serval.unil.ch/resource/serval:BIB_AB990544B7BE.P001/REF.pdf
http://hdl.handle.net/20.500.11850/610772

Chromosome-scale haplotype-resolved pangenomics

Autoři: Shilpa Garg Renzo Balboa Josiah Kuja

Zdroj: Trends in Genetics. 38:1103-1107

Témata: genome informatics, 0301 basic medicine, chromosome-scale haplotypes, 0303 health sciences, 03 medical and health sciences, Haplotypes, Humans, genome evolution, pangenomics, reference genome, Chromosomes, genomic diversity

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/35817620

Clinical utility of liquid biopsy-based companion diagnostics in the non-small-cell lung cancer treatment

Autoři: Yoshiharu Sato

Zdroj: Explor Target Antitumor Ther
Exploration of Targeted Anti-tumor Therapy, Vol 3, Iss 5, Pp 630-642 (2022)

Témata: genome informatics, 03 medical and health sciences, 0302 clinical medicine, liquid biopsy, companion diagnostics, Review, Internal medicine, RC31-1245, 3. Good health

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/36338524
https://doaj.org/article/68fe9251a8be49178a2612cca8b1e31a

MethPhaser: methylation-based long-read haplotype phasing of human genomes

Autoři: Yilei Fu Sergey Aganezov Medhat Mahmoud a další

Zdroj: Nat Commun
Nature Communications, Vol 15, Iss 1, Pp 1-12 (2024)

Témata: 0301 basic medicine, Medical Sciences, Science, 0206 medical engineering, 02 engineering and technology, Genome informatics, Polymorphism, Single Nucleotide, Article, Biomedical Informatics, Cell Line, 03 medical and health sciences, Medical Specialties, Medicine and Health Sciences, and Immunity, Humans, Polymorphism, Biological Phenomena, Genome, Genome, Human, Cell Phenomena, Life Sciences, Genetics and Genomics, Single Nucleotide, DNA Methylation, Computational biology and bioinformatics, Haplotypes, Medical Molecular Biology, Mutation, Medical Genetics, Software, Human

Popis souboru: application/pdf

Přístupová URL adresa: https://pubmed.ncbi.nlm.nih.gov/38909018
https://doaj.org/article/1dd83e9f61f048f28d406eb4b606a3d9

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Autoři: Matalonga, Leslie Hernández-Ferrer, Carles DITF-ITHACA, Solve-RD a další

Přispěvatelé: Matalonga, Leslie Hernández-Ferrer, Carles DITF-ITHACA, Solve-RD a další

Zdroj: Eur J Hum Genet
Repisalud
Instituto de Salud Carlos III (ISCIII)
European journal of human genetics 29(9), 1337-1347 (2021). doi:10.1038/s41431-021-00852-7
European Journal of Human Genetics, 29, 9, pp. 1337-1347
European journal of human genetics

Témata: 0301 basic medicine, [SDV.MHEP.AHA] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Genetic testing, methods [Genetic Testing], genetics [Rare Diseases], EXOME, MEDICAL GENETICS, Diseases, AMERICAN-COLLEGE, VARIANTS, INHERITANCE, Genome informatics, Sensitivity and Specificity, Article, standards [Genetic Testing], Genomic analysis, 03 medical and health sciences, Rare Diseases, Diseases, Genetic testing, Genome informatics, Genomic analysis, Medicine and Health Sciences, Humans, Internal Medicine - Radboud University Medical Center, ddc:610, Genetic Testing, Genetic Testing, Genomics, Humans, Pedigree, Rare Diseases, Sensitivity and Specificity, Software, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, 0303 health sciences, JGM, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, methods [Genomics], 9. Industry and infrastructure, Life Sciences, Neurology - Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Genomics, Pedigree, 3. Good health, diagnosis [Rare Diseases], Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences, Human Genetics - Radboud University Medical Center, standards [Genomics], Software

Popis souboru: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/zip; text/xml; STAMPA

Přístupová URL adresa: https://www.nature.com/articles/s41431-021-00852-7.pdf
https://pubmed.ncbi.nlm.nih.gov/34075210
http://hdl.handle.net/20.500.12105/14985
https://shura.shu.ac.uk/29063/1/41431_2021_Article_852.pdf
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/237905
http://hdl.handle.net/11588/873452
https://www.ncbi.nlm.nih.gov/pubmed/34075210
https://repositori.upf.edu/handle/10230/49023
https://www.nature.com/articles/s41431-021-00852-7
https://shura.shu.ac.uk/id/eprint/29063
https://www.nature.com/articles/s41431-021-00852-7.pdf
https://hal.archives-ouvertes.fr/hal-03352530v1
https://repository.ubn.ru.nl/handle/2066/237905
https://repository.ubn.ru.nl//bitstream/handle/2066/237905/237905.pdf
https://discovery-pp.ucl.ac.uk/id/eprint/10137219/
https://publications.scilifelab.se/publication/b2d627809f54443d921bec29619bcc70

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

Autoři: Edwards, Jonathan J Rouillard, Andrew D Fernandez, Nicolas F a další

Zdroj: JACC Basic to Translational Science. 5(4)

Témata: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Cardiovascular, Heart Disease, Genetics, Aetiology, 2.1 Biological and endogenous factors, congenital heart disease, systems biology, translational genomics, CHD, congenital heart disease, CORUM, Comprehensive Resource of Mammalian Protein Complexes, CRISPR, clustered regularly interspaced short palindromic repeats, CTD, conotruncal defect, GOBP, Gene Ontology biological processes, HHE, high heart expression, HLHS, hypoplastic left heart syndrome, HTX, heterotaxy, LVOTO, left ventricular outflow tract obstruction, MGI, Mouse Genome Informatics, PCGC, Pediatric Cardiac Genomics Consortium, PPI, protein-protein interaction, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular medicine and haematology

Popis souboru: application/pdf

Přístupová URL adresa: https://escholarship.org/uc/item/25s8k1ms
https://escholarship.org/content/qt25s8k1ms/qt25s8k1ms.pdf