Suchergebnisse - "WHOLE genome sequencing"

Genomic characterizations of Klebsiella variicola: emerging pathogens identified from sepsis patients in Ethiopian referral hospitals.

Autoren: Legese MH Asrat D Mihret A et al.

Quelle: Emerging microbes & infections [Emerg Microbes Infect] 2025 Dec; Vol. 14 (1), pp. 2440494. Date of Electronic Publication: 2024 Dec 18.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101594885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2222-1751 (Electronic) Linking ISSN: 22221751 NLM ISO Abbreviation: Emerg Microbes Infect Subsets: MEDLINE

MeSH-Schlagworte: Sepsis*/microbiology , Klebsiella*/genetics , Klebsiella*/isolation & purification , Klebsiella Infections*/microbiology , Klebsiella Infections*/epidemiology , Drug Resistance, Multiple, Bacterial*/genetics , Phylogeny* , Anti-Bacterial Agents*/pharmacology , Whole Genome Sequencing* , Genome, Bacterial*, Humans ; Ethiopia/epidemiology ; Microbial Sensitivity Tests ; Plasmids/genetics ; Genomics ; Hospitals ; Virulence Factors/genetics ; Male ; Female ; Adult

SCR Organism: Klebsiella variicola

Benchmarking Ploidy Estimation Methods for Bulk and Single-Cell Whole Genome Sequencing.

Autoren: Song Y Mei Z Zheng Q et al.

Quelle: Advanced science (Weinheim, Baden-Wurttemberg, Germany) [Adv Sci (Weinh)] 2025 Dec; Vol. 12 (45), pp. e07839. Date of Electronic Publication: 2025 Sep 08.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: WILEY-VCH Country of Publication: Germany NLM ID: 101664569 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2198-3844 (Electronic) Linking ISSN: 21983844 NLM ISO Abbreviation: Adv Sci (Weinh) Subsets: MEDLINE

MeSH-Schlagworte: Single-Cell Analysis*/methods , Whole Genome Sequencing*/methods , Ploidies*, Humans ; Benchmarking/methods ; Neoplasms/genetics ; Computational Biology/methods

Whole-genome sequencing-based surveillance system for Mycobacterium tuberculosis in Portugal.

Autoren: Pinto M Macedo R

Quelle: Tuberculosis (Edinburgh, Scotland) [Tuberculosis (Edinb)] 2025 Dec; Vol. 155, pp. 102691. Date of Electronic Publication: 2025 Sep 12.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Churchill Livingstone Country of Publication: Scotland NLM ID: 100971555 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-281X (Electronic) Linking ISSN: 14729792 NLM ISO Abbreviation: Tuberculosis (Edinb) Subsets: MEDLINE

MeSH-Schlagworte: Mycobacterium tuberculosis*/genetics , Mycobacterium tuberculosis*/drug effects , Mycobacterium tuberculosis*/isolation & purification , Whole Genome Sequencing* , Tuberculosis, Multidrug-Resistant*/epidemiology , Tuberculosis, Multidrug-Resistant*/microbiology , Tuberculosis, Multidrug-Resistant*/drug therapy , Tuberculosis, Multidrug-Resistant*/diagnosis , Genome, Bacterial*, Portugal/epidemiology ; Humans ; Retrospective Studies ; Prospective Studies ; Genotype ; Antitubercular Agents/therapeutic use ; Polymorphism, Single Nucleotide ; Drug Resistance, Multiple, Bacterial/genetics

Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis.

Autoren: More RP Sumathipala D Dolling H et al.

Quelle: European journal of medical genetics [Eur J Med Genet] 2025 Dec; Vol. 78, pp. 105051. Date of Electronic Publication: 2025 Sep 29.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

MeSH-Schlagworte: Rare Diseases*/genetics , Rare Diseases*/diagnosis , Rare Diseases*/economics , Whole Genome Sequencing*/economics , Whole Genome Sequencing*/methods , Genomics*/economics , Genomics*/methods , Genetic Testing*/economics , Genetic Testing*/methods, Humans ; United Kingdom ; Pilot Projects ; Child

Genome sequencing and comparative genome analysis of Clostridium perfringens of animal origin.

Autoren: Karthik K Anbazhagan S Thomas P et al.

Quelle: Microbial pathogenesis [Microb Pathog] 2025 Dec; Vol. 209, pp. 108079. Date of Electronic Publication: 2025 Sep 30.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: England NLM ID: 8606191 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-1208 (Electronic) Linking ISSN: 08824010 NLM ISO Abbreviation: Microb Pathog Subsets: MEDLINE

MeSH-Schlagworte: Clostridium perfringens*/genetics , Clostridium perfringens*/isolation & purification , Clostridium perfringens*/classification , Clostridium perfringens*/pathogenicity , Clostridium perfringens*/drug effects , Genome, Bacterial*/genetics , Whole Genome Sequencing* , Clostridium Infections*/microbiology , Clostridium Infections*/veterinary, Animals ; Dogs ; Multilocus Sequence Typing ; Cattle ; Phylogeny ; Swine ; India ; Genetic Variation ; Virulence Factors/genetics ; Virulence/genetics ; Drug Resistance, Multiple, Bacterial/genetics ; Bacterial Toxins/genetics ; Genomics

Low-coverage whole-genome sequencing facilitates accurate and cost-effective haplotype reconstruction in complex mouse crosses.

Autoren: Widmayer SJ Wooldridge LK Swanzey E et al.

Quelle: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2025 Dec; Vol. 36 (4), pp. 1063-1080. Date of Electronic Publication: 2025 Jul 01.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

MeSH-Schlagworte: Haplotypes* , Whole Genome Sequencing*/methods , Whole Genome Sequencing*/economics, Animals ; Mice ; Polymorphism, Single Nucleotide ; Crosses, Genetic ; Quantitative Trait Loci ; Genome ; Genotype ; Cost-Benefit Analysis

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.

Autoren: Xu J Xu Y Su W et al.

Quelle: BMC medical genomics [BMC Med Genomics] 2025 Nov 21; Vol. 18 (1), pp. 188. Date of Electronic Publication: 2025 Nov 21.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

MeSH-Schlagworte: Intellectual Disability*/genetics , Intellectual Disability*/diagnosis , Developmental Disabilities*/genetics , Developmental Disabilities*/diagnosis , Whole Genome Sequencing*, Humans ; Child ; Child, Preschool ; Female ; Male ; Adolescent ; Infant ; Retrospective Studies ; DNA Copy Number Variations ; Infant, Newborn

Genotype imputation from low-coverage WGS using haplotype reference panels in cultivated strawberry.

Autoren: Koorevaar T Willemsen JH Visser RGF et al.

Quelle: BMC genomics [BMC Genomics] 2025 Nov 19; Vol. 26 (1), pp. 1061. Date of Electronic Publication: 2025 Nov 19.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

MeSH-Schlagworte: Fragaria*/genetics , Haplotypes* , Whole Genome Sequencing*/methods , Genotyping Techniques*/methods, Genotype ; Polymorphism, Single Nucleotide ; Linkage Disequilibrium ; Genome, Plant ; High-Throughput Nucleotide Sequencing

Whole genome sequencing of the pulmonary microbiome in interstitial lung disease subtypes.

Autoren: Knudsen KS Husebø G Nielsen R et al.

Quelle: Respiratory research [Respir Res] 2025 Nov 19; Vol. 26 (1), pp. 324. Date of Electronic Publication: 2025 Nov 19.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 101090633 Publication Model: Electronic Cited Medium: Internet ISSN: 1465-993X (Electronic) Linking ISSN: 14659921 NLM ISO Abbreviation: Respir Res Subsets: MEDLINE

MeSH-Schlagworte: Lung Diseases, Interstitial*/microbiology , Lung Diseases, Interstitial*/genetics , Lung Diseases, Interstitial*/diagnosis , Microbiota*/genetics , Lung*/microbiology , Whole Genome Sequencing*/methods, Humans ; Male ; Female ; Middle Aged ; Aged ; Bronchoalveolar Lavage Fluid/microbiology ; Dysbiosis/genetics

Cryopreserved Tissue Biospecimens Offer Superior Quality for Whole-Genome Sequencing of Various Cancers Compared to Paired Formalin-Fixed Paraffin-Embedded Tissues.

Autoren: Dixon K Lee JH Miller R et al.

Quelle: International journal of molecular sciences [Int J Mol Sci] 2025 Nov 14; Vol. 26 (22). Date of Electronic Publication: 2025 Nov 14.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

MeSH-Schlagworte: Cryopreservation*/methods , Paraffin Embedding*/methods , Neoplasms*/genetics , Neoplasms*/pathology , Whole Genome Sequencing*/methods , Tissue Fixation*/methods, Humans ; Formaldehyde/chemistry ; Mutation

Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.

Autoren: Reimers R Bailey M Brown C et al.

Körperschaften: Reimers R Bailey M Brown C et al.

Quelle: BMJ open [BMJ Open] 2025 Nov 13; Vol. 15 (11), pp. e098609. Date of Electronic Publication: 2025 Nov 13.

Publikationsart: Adaptive Clinical Trial; Journal Article

Info zur Zeitschrift: Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

MeSH-Schlagworte: Genetic Diseases, Inborn*/diagnosis , Genetic Diseases, Inborn*/genetics , Genetic Testing*/methods , Genetic Testing*/economics , Neonatal Screening*/methods , Neonatal Screening*/economics , Whole Genome Sequencing*/economics , Whole Genome Sequencing*/methods, Female ; Humans ; Infant, Newborn ; Male ; Cost-Benefit Analysis ; Pilot Projects

Optimizing resources in genomic surveillance: South Carolina's QC-plus approach.

Autoren: Cox R Goodwin G Freeman J et al.

Quelle: Frontiers in public health [Front Public Health] 2025 Nov 10; Vol. 13, pp. 1694911. Date of Electronic Publication: 2025 Nov 10 (Print Publication: 2025).

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Internet ISSN: 2296-2565 (Electronic) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: MEDLINE

MeSH-Schlagworte: COVID-19*/epidemiology , COVID-19*/diagnosis , COVID-19*/virology , SARS-CoV-2*/genetics , SARS-CoV-2*/isolation & purification , Whole Genome Sequencing*/methods , Quality Control* , Genomics*/methods, Humans ; South Carolina/epidemiology ; Retrospective Studies ; Prospective Studies

Mycobacterium tuberculosis cultured in MGIT media for whole-genome sequencing application: a systematic literature review and meta-analysis.

Autoren: Conceição EC Wells F Sharma A et al.

Quelle: Microbial genomics [Microb Genom] 2025 Nov; Vol. 11 (11).

Publikationsart: Journal Article; Systematic Review; Meta-Analysis; Review

Info zur Zeitschrift: Publisher: Microbiology Society Country of Publication: England NLM ID: 101671820 Publication Model: Print Cited Medium: Internet ISSN: 2057-5858 (Electronic) Linking ISSN: 20575858 NLM ISO Abbreviation: Microb Genom Subsets: MEDLINE

MeSH-Schlagworte: Mycobacterium tuberculosis*/genetics , Mycobacterium tuberculosis*/growth & development , Mycobacterium tuberculosis*/isolation & purification , Whole Genome Sequencing*/methods , Culture Media*/chemistry, Humans ; Genome, Bacterial ; Tuberculosis/microbiology ; Tuberculosis/diagnosis

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.

Autoren: Shah A Monger S Troup M et al.

Quelle: Briefings in bioinformatics [Brief Bioinform] 2025 Nov 01; Vol. 26 (6).

Publikationsart: Journal Article; Evaluation Study

Info zur Zeitschrift: Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

MeSH-Schlagworte: Whole Genome Sequencing*/methods , Mutation* , Genome, Human* , Computational Biology*/methods , Software*, Humans ; High-Throughput Nucleotide Sequencing

Comparing Genome Sequencing Methods to Reconstruct the Spread of Piscine Myocarditis Virus in Ireland.

Autoren: Tighe AJ Carlsson J Ruane NM

Quelle: Journal of fish diseases [J Fish Dis] 2025 Nov; Vol. 48 (11), pp. e14150. Date of Electronic Publication: 2025 May 26.

Publikationsart: Journal Article; Comparative Study

Info zur Zeitschrift: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 9881188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2761 (Electronic) Linking ISSN: 01407775 NLM ISO Abbreviation: J Fish Dis Subsets: MEDLINE

MeSH-Schlagworte: Fish Diseases*/virology , Fish Diseases*/epidemiology , Fish Diseases*/transmission , Salmo salar* , Whole Genome Sequencing*/veterinary , Whole Genome Sequencing*/methods , Totiviridae*/genetics , Genome, Viral* , RNA Virus Infections*/veterinary , RNA Virus Infections*/virology , RNA Virus Infections*/epidemiology , RNA Virus Infections*/transmission, Animals ; Ireland/epidemiology ; Phylogeny ; Genetic Variation

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea.

Autoren: Lee S Koh JY Lim J et al.

Quelle: Journal of child neurology [J Child Neurol] 2025 Nov; Vol. 40 (10), pp. 889-899. Date of Electronic Publication: 2025 Jun 11.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Sage Country of Publication: United States NLM ID: 8606714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8283 (Electronic) Linking ISSN: 08830738 NLM ISO Abbreviation: J Child Neurol Subsets: MEDLINE

MeSH-Schlagworte: Critical Illness* , Whole Genome Sequencing*/methods, Humans ; Female ; Male ; Infant ; Republic of Korea ; Infant, Newborn ; Child, Preschool ; Intensive Care Units, Pediatric

Complete genome sequence analysis of Boeremia exigua, a fungal pathogen causing leaf spot disease of Panax notoginseng.

Autoren: Ma S Wang T Chen Z et al.

Quelle: BMC genomics [BMC Genomics] 2025 Oct 31; Vol. 26 (1), pp. 980. Date of Electronic Publication: 2025 Oct 31.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

MeSH-Schlagworte: Panax notoginseng*/microbiology , Plant Diseases*/microbiology , Whole Genome Sequencing* , Genome, Fungal* , Ascomycota*/genetics , Ascomycota*/pathogenicity, Phylogeny ; Plant Leaves/microbiology

Whole-genome Sequence Analysis Revealed Novel Subjective Cognitive Decline-associated Genes in 10,763 Chinese.

Autoren: Wang M Sun L Xu X et al.

Quelle: Genomics, proteomics & bioinformatics [Genomics Proteomics Bioinformatics] 2025 Oct 28; Vol. 23 (5).

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Oxford University Press on behalf of Beijing Institute of Genomics, Chinese Academy of Sciences and China National Center for Bioinformation and Genetics Society of China Country of Publication: England NLM ID: 101197608 Publication Model: Print Cited Medium: Internet ISSN: 2210-3244 (Electronic) Linking ISSN: 16720229 NLM ISO Abbreviation: Genomics Proteomics Bioinformatics Subsets: MEDLINE

MeSH-Schlagworte: Cognitive Dysfunction*/genetics , Whole Genome Sequencing*, Aged ; Female ; Humans ; Male ; Middle Aged ; Alzheimer Disease/genetics ; China ; Polymorphism, Single Nucleotide ; East Asian People

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Autoren: Brashear AM Gustafson AG Quitadamo A et al.

Quelle: Scientific reports [Sci Rep] 2025 Oct 28; Vol. 15 (1), pp. 37679. Date of Electronic Publication: 2025 Oct 28.

Publikationsart: Journal Article; Multicenter Study

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

MeSH-Schlagworte: Whole Genome Sequencing*/methods , Exome Sequencing*/methods , Musculoskeletal Diseases*/genetics , Musculoskeletal Diseases*/diagnosis , Genomics*/methods, Humans ; Child ; Male ; Female ; Adolescent ; Child, Preschool ; Cohort Studies ; Phenotype

Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.

Autoren: Khan MR Shah AA Al Smadi MA et al.

Quelle: Scientific reports [Sci Rep] 2025 Oct 20; Vol. 15 (1), pp. 36476. Date of Electronic Publication: 2025 Oct 20.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

MeSH-Schlagworte: Whole Genome Sequencing*/methods , Spermatozoa*/pathology , Spermatozoa*/metabolism , Infertility, Male*/genetics , Oligospermia*/genetics, Male ; Humans ; Genetic Markers ; Adult ; Asthenozoospermia/genetics ; Mutation, Missense