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PLoS One2015;10(9):e0135193.January 1, 2015Journal Article

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Emily Olfson1, Catherine E Cottrell2, Nicholas O Davidson3, Christina A Gurnett4, Jonathan W Heusel5, Nathan O Stitziel6, Li-Shiun Chen1, Sarah Hartz1, Rakesh Nagarajan7, Nancy L Saccone8, Laura J Bierut1
1Department of Psychiatry, Washington University School of Medicine, St Louis, Missouri, United States of America.
2Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, United States of America; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.
3Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, St Louis, Missouri, United States of America.
4Department of Neurology, Washington University School of Medicine, St Louis, Missouri, United States of America.
5Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, United States of America.
6Cardiovascular Division, Department of Medicine, Washington University School of Medicine, St Louis, Missouri, United States of America; Division of Statistical Genomics, Washington University School of Medicine, St Louis, Missouri, United States of America.
7Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, United States of America; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America; Chief Informatics Officer, Pierian DX, St Louis, Missouri, United States of America.
8Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America.
PubMed PMC DOI PDF

Abstract

The American College of Medical Genetics and Genomics (ACMG) recommends that clinical sequencing laboratories return secondary findings in 56 genes associated with medically actionable conditions. Our goal was to apply a systematic, stringent approach consistent with clinical standards to estimate the prevalence of pathogenic variants associated with such conditions using a diverse sequencing refe…

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