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
By Sarah S. Kalia, Kathy Adelman, Sherri Bale, Wendy K Chung, Christine M. Eng, James P. Evans, Gail E. Herman, Sophia B. Hufnagel, Teri E. Klein, Bruce R. Korf and 7 more. Genetics in Medicine, 2016
1,534 citations recorded by the source corpus.
Subfields: Genetics, Pathology and Forensic Medicine
View Paper: https://www.semanticscholar.org/paper/ea6ff90b141a015e7bf3816f376f841ed9f0ded5
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In Genetics
- Martin Kircher
- William E. Evans
- Douglas M. Fowler
- Jay Shendure
- Lea M. Starita
- Mary V. Relling
- Atul J. Butte
- Vanessa E. Gray
Citations in the corpus
- Ensembl 2021 (2020, background): “This includes the 59 genes considered to be clinically actionable by the American College of Medical Genetics and Genomics (ACMG) (21).”
- A Longitudinal Big Data Approach for Precision Health (2019, positive): “Exomes were assessed for pathogenic variants according to the American College of Medical Genetics Guidelines 12,75 .”
- 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. (2019, background): “The ACMG has issued an updated list of over 50 actionable genes.(162) Laboratories performing WES or WGS (generally for diagnostic odyssey cases) should report the presence of pathogenic”
- Ensembl 2022 (2021, methodology): “We released our first set of MANE Select transcripts for all clinical genes that have a confirmed association with human disease including those in the ACMG Secondary Findings genes (17) (Ensembl release 104, May 2021).”
- Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing (2018, background): “To demonstrate that VAMP-seq is applicable to diverse proteins, we evaluated wild type and known or predicted low-abundance variants for seven additional pharmacogenes or “clinically actionable” genes 54,55 (Supplementary Table 6).”
- Diagnostic Utility of Exome Sequencing for Kidney Disease (2018, background): “lopathy due to mutations in COL4A3 (27), COL4A4 (21), or COL4A5 (44); and UMOD‐associated tubulointerstitial disease (9).”