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Publication : american journal of human genetics
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Academic Journal

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

  • Authors : Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis

  • Source: American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 863-876. Date of Electronic Publication: 2024 Apr 01.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Subjects: Exome*/Exome*/Exome*/genetics ; Genetic Testing*; Humans

  • Source: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1229-1248.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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Academic Journal

Scalable mixed model methods for set-based association studies on large-scale categorical data analysis and its application to exome-sequencing data in UK Biobank.

  • Authors : Bi W; Department of Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China; Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China

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

  • Source: American journal of human genetics [Am J Hum Genet] 2023 May 04; Vol. 110 (5), pp. 762-773. Date of Electronic Publication: 2023 Apr 04.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-exome sequencing identifies rare genetic variants associated with human plasma metabolites.

Subjects: Exome*/Exome*/Exome*/genetics; Gene Frequency/Gene Frequency/Gene Frequency/genetics ; Humans

  • Source: American journal of human genetics [Am J Hum Genet] 2022 Jun 02; Vol. 109 (6), pp. 1038-1054. Date of Electronic Publication: 2022 May 13.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.

Subjects: Genetic Predisposition to Disease* ; Exome Sequencing*; COVID-19/COVID-19/COVID-19/*diagnosis

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1350-1355. Date of Electronic Publication: 2021 Jun 03.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia.

  • Authors : Li Q; Endoscopy Center and Endoscopy Research Institute, Zhongshan Hospital, Fudan University, Shanghai 200032, China.; Chen W

Subjects: Exome* ; Genetic Predisposition to Disease* ; Genetic Variation*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1478-1487. Date of Electronic Publication: 2021 Jun 30.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Subjects: Exome* ; Genetic Markers* ; Genetic Predisposition to Disease*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 965-982. Date of Electronic Publication: 2021 Apr 30.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery.

Subjects: Rare Diseases*/Rare Diseases*/Rare Diseases*/diagnosis ; Rare Diseases*/Rare Diseases*/Rare Diseases*/genetics ; Exome*/Exome*/Exome*/genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 1947-1959.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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Academic Journal

Exome variant discrepancies due to reference-genome differences.

  • Authors : Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Dawood M

Subjects: Exome* ; Genome, Human* ; Polymorphism, Single Nucleotide*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Jul 01; Vol. 108 (7), pp. 1239-1250. Date of Electronic Publication: 2021 Jun 14.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The genetic architecture of pediatric cardiomyopathy.

Subjects: Exome* ; Gene Expression Regulation* ; Genotype*

  • Source: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 282-298. Date of Electronic Publication: 2022 Jan 12.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  2,213 results for ""Exome""