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Academic Journal

Inferring compound heterozygosity from large-scale exome sequencing data.

Subjects: Exome*/Exome*/Exome*/genetics ; High-Throughput Nucleotide Sequencing*; Humans

  • Source: Nature genetics [Nat Genet] 2024 Jan; Vol. 56 (1), pp. 152-161. Date of Electronic Publication: 2023 Dec 06.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Public platform with 39,472 exome control samples enables association studies without genotype sharing.

  • Authors : Artomov M; Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA. .; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. .

Subjects: Exome*/Exome*/Exome*/genetics ; Algorithms*; Humans

  • Source: Nature genetics [Nat Genet] 2024 Feb; Vol. 56 (2), pp. 327-335. Date of Electronic Publication: 2024 Jan 10.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank.

Subjects: Biological Specimen Banks* ; Exome*/Exome*/Exome*/genetics ; Genome-Wide Association Study*/Genome-Wide Association Study*/Genome-Wide Association Study*/methods

  • Source: Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2345-2351. Date of Electronic Publication: 2024 Sep 25.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Subjects: Exome*/Exome*/Exome*/genetics ; Neoplasms*; Female

  • Source: Nature genetics [Nat Genet] 2023 Sep; Vol. 55 (9), pp. 1435-1439. Date of Electronic Publication: 2023 Aug 17.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.

  • Authors : Babadi M; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .; Fu JM

Subjects: Exome*/Exome*/Exome*/genetics ; DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics; Humans

  • Source: Nature genetics [Nat Genet] 2023 Sep; Vol. 55 (9), pp. 1589-1597. Date of Electronic Publication: 2023 Aug 21.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts.

  • Authors : Zhou W; Center for Statistical Genetics, University of Michigan School of Public Health, Ann Arbor, MI, USA. .; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. .

Subjects: Case-Control Studies* ; Exome* ; Linear Models*

  • Source: Nature genetics [Nat Genet] 2020 Jun; Vol. 52 (6), pp. 634-639. Date of Electronic Publication: 2020 May 18.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Exome sequencing of desmoplastic melanoma identifies recurrent NFKBIE promoter mutations and diverse activating mutations in the MAPK pathway.

  • Authors : Shain AH; Department of Pathology, University of California, San Francisco, San Francisco, California, USA.; Helen Diller Family Comprehensive Cancer Center, San Francisco, California, USA.

Subjects: Exome* ; MAP Kinase Signaling System* ; Mutation*

  • Source: Nature genetics [Nat Genet] 2015 Oct; Vol. 47 (10), pp. 1194-9. Date of Electronic Publication: 2015 Sep 07.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

  • Authors : Krauthammer M; Program in Computational Biology and Bioinformatics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.

Subjects: Exome*; Melanoma/Melanoma/Melanoma/*genetics ; Neurofibromin 1/Neurofibromin 1/Neurofibromin 1/*genetics

  • Source: Nature genetics [Nat Genet] 2015 Sep; Vol. 47 (9), pp. 996-1002. Date of Electronic Publication: 2015 Jul 27.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Paired exome analysis of Barrett's esophagus and adenocarcinoma.

  • Authors : Stachler MD; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.

Subjects: Exome*; Adenocarcinoma/Adenocarcinoma/Adenocarcinoma/*genetics ; Barrett Esophagus/Barrett Esophagus/Barrett Esophagus/*genetics Adenocarcinoma Of Esophagus

  • Source: Nature genetics [Nat Genet] 2015 Sep; Vol. 47 (9), pp. 1047-55. Date of Electronic Publication: 2015 Jul 20.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma.

  • Authors : Jiang L; State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Shanghai Jiao Tong University (SJTU) School of Medicine and Collaborative Innovation Center of Systems Biomedicine, Shanghai, China.; Gu ZH

Subjects: Exome*; DEAD-box RNA Helicases/DEAD-box RNA Helicases/DEAD-box RNA Helicases/*genetics ; Lymphoma, T-Cell/Lymphoma, T-Cell/Lymphoma, T-Cell/*genetics

  • Source: Nature genetics [Nat Genet] 2015 Sep; Vol. 47 (9), pp. 1061-6. Date of Electronic Publication: 2015 Jul 20.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  2,635 results for ""Exome""