Concepedia

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort

M. Schwartz, Cara Z. McCormick, Amanda L. Lazzeri, D’Andra M. Lindbuchler, Miranda L. G. Hallquist, Kandamurugu Manickam, Adam H. Buchanan, Alanna Kulchak Rahm, Monica A. Giovanni, Lauren R. Frisbie,

The American Journal of Human Genetics · 2018 · 182 citations · 19 references

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19

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

, , +16

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

Sarah S. Kalia, Kathy Adelman, Sherri J. Bale et al. · Genetics in Medicine · 2016 · 1.7K citations · Full text

, , +16

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang, Donna M. Muzny, Fan Xia et al. · JAMA · 2014 · 1.4K citations

, , +17

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer, Jane Juusola, Megan T. Cho et al. · Genetics in Medicine · 2015 · 1.1K citations · Full text

, , +14