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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 421 - 429 (9page)
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In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which have been widely adopted into clinical practice. Despite these standardized efforts, the degrees of subjectivity and uncertainty allowed by the guidelines can lead to inconsistent variant classification across clinical laboratories, making it difficult to assess the pathogenicity of identified variants. We describe the critical elements of variant interpretation processes and potential pitfalls through practical examples and provide updated information based on a review of recent literature. The variant classification we describe is meant to be applicable to sequence variants for Mendelian disorders, whether identified by single-gene tests, multi-gene panels, exome sequencing, or genome sequencing. Continuing efforts to improve the reproducibility and objectivity of sequence variant interpretation across individuals and laboratories are needed.
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참고문헌 (52)
참고문헌 신청
Vears DF / 2017 / Reporting practices for variants of uncertain significance from next generation sequencing technologies / Eur J Med Genet 60:553~558
Kazazian HH / 2000 / ACMG recommendation for standards for interpretation of sequence variations / Genet Med 2:302~303
Richards CS / 2008 / ACMG recommendations for standards for interpretation and reporting of sequence variations : Revisions 2007 / Genet Med 10:294~300
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
Harrison SM / 2017 / Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar / Genet Med 19:1096~1104
Kazazian HH / 2000 / ACMG recommendation for standards for interpretation of sequence variations / Genet Med 2:302~303
Richards CS / 2008 / ACMG recommendations for standards for interpretation and reporting of sequence variations : Revisions 2007 / Genet Med 10:294~300
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~424
Harrison SM / 2017 / Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar / Genet Med 19:1096~1104
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