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Academic Journal

Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines.

  • Authors : Yoon E; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.; Lee JK

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

  • Source: Journal of medical genetics [J Med Genet] 2023 Dec 21; Vol. 61 (1), pp. 57-60. Date of Electronic Publication: 2023 Dec 21.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Best practices for variant calling in clinical sequencing.

  • Authors : Koboldt DC; Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH, USA. .; Department of Pediatrics, The Ohio State University, Columbus, OH, USA. .

Subjects: DNA Mutational Analysis*/DNA Mutational Analysis*/DNA Mutational Analysis*/methods ; DNA Mutational Analysis*/DNA Mutational Analysis*/DNA Mutational Analysis*/standards ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Genome medicine [Genome Med] 2020 Oct 26; Vol. 12 (1), pp. 91. Date of Electronic Publication: 2020 Oct 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

The Evolution of Constitutional Sequence Variant Interpretation.

  • Authors : Mester J; GeneDx Inherited Cancer Program, Gaithersburg, MD, USA. Electronic address: .; Pesaran T

Subjects: Genetic Testing* ; Sequence Analysis, DNA*; Genetic Variation/Genetic Variation/Genetic Variation/*genetics

  • Source: Clinics in laboratory medicine [Clin Lab Med] 2020 Jun; Vol. 40 (2), pp. 135-148.Publisher: Elsevier Health Sciences Division Country of Publication: United States NLM ID: 8100174 Publication Model: Print Cited Medium: Internet

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Academic Journal

Considerations in assessing germline variant pathogenicity using cosegregation analysis.

  • Authors : Belman S; University of Utah, Salt Lake City, UT, USA.; Wellcome Sanger Institute, University of Cambridge, Hinxton, UK.

Subjects: Genetic Testing* ; Genetic Variation*; Bayes Theorem

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Dec; Vol. 22 (12), pp. 2052-2059. Date of Electronic Publication: 2020 Aug 10.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

  • Authors : Strande NT; Department of Pathology and Laboratory Medicine, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.; Brnich SE

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Genetic Variation/Genetic Variation/Genetic Variation/*genetics ; Sequence Analysis, DNA/Sequence Analysis, DNA/Sequence Analysis, DNA/*standards

  • Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Sep; Vol. 20 (9), pp. 918-926. Date of Electronic Publication: 2018 Jul 10.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.

  • Authors : Encarnação M; Research and Development Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.; Newborn Screening, Metabolism & Genetics Unit, Human Genetics Department, National Institute of Health Doutor Ricardo Jorge, 4000-055 Porto, Portugal.

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

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 Sep 01; Vol. 21 (17). Date of Electronic Publication: 2020 Sep 01.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Clinical Interpretation of Sequence Variants.

  • Authors : Zhang J; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

Subjects: Genetic Variation* ; Genome, Human* ; Software*

  • Source: Current protocols in human genetics [Curr Protoc Hum Genet] 2020 Jun; Vol. 106 (1), pp. e98.Country of Publication: United States NLM ID: 101287858 Publication Model: Print Cited Medium: Internet ISSN: 1934-8258 (Electronic) Linking ISSN:

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Academic Journal

Impact of Reducing DNA Input on Next-Generation Sequencing Library Complexity and Variant Detection.

  • Authors : McNulty SN; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri. Electronic address: .; Mann PR

Subjects: Gene Library* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Genetic Variation*

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2020 May; Vol. 22 (5), pp. 720-727. Date of Electronic Publication: 2020 Mar 04.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.

Subjects: Genetic Variation*; Genetic Testing/Genetic Testing/Genetic Testing/*standards; Gene Library

  • Source: Genome medicine [Genome Med] 2019 Dec 20; Vol. 11 (1), pp. 85. Date of Electronic Publication: 2019 Dec 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.

  • Authors : Brown A; Wellington Regional Genetics Laboratory, Wellington Hospital, Wellington, New Zealand.; Zamanpoor M

Subjects: Genes, BRCA1* ; Genes, BRCA2* ; Genetic Variation*

  • Source: Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2019 Nov; Vol. 19 (4), pp. e324-e334. Date of Electronic Publication: 2019 Dec 22.Publisher: Sultan Qaboos University Country of Publication: Oman NLM ID: 101519915 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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