A systematic approach to assessing the clinical significance of genetic variants-Reference-Cited by-同舟云学术

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A systematic approach to assessing the clinical significance of genetic variants

Published:2013-10-17 Issue:5 Volume:84 Page:453-463
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Duzkale H¹²,Shen J¹²³,McLaughlin H¹²,Alfares A¹²⁴,Kelly MA²,Pugh TJ²³,Funke BH²³,Rehm HL²³,Lebo MS²³

Affiliation:

1. Harvard Medical School Genetics Training Program; Boston MA USA

2. Laboratory for Molecular Medicine; Partners HealthCare Center for Personalized Genetic Medicine; Cambridge MA USA

3. Department of Pathology, Brigham and Woman's Hospital; Massachusetts General Hospital, and Harvard Medical School; Boston MA USA

4. Department of Pediatrics; Qassim University; Buraydah Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference45 articles.

1. Standards and guidelines for CFTR mutation testing;Richards;Genet Med,2002

2. Next generation sequencing to characterize mitochondrial genomic DNA heteroplasmy;Huang;Curr Protoc Hum Genet,2011

3. Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel;Valencia;PLoS One,2013

4. ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007;Richards;Genet Med,2008

5. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants;Kearney;Genet Med,2011

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