A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

Genet Med. 2019 Aug;21(8):1699-1701. doi: 10.1038/s41436-018-0432-7. Epub 2019 Jan 23.

Annie Niehaus^{1

2}, Danielle R Azzariti^{2

3}, Steven M Harrison^{2

3}, Marina T DiStefano², Sarah E Hemphill², Ozlem Senol-Cosar², Heidi L Rehm^{4

5

6}

¹ College of Medicine, Medical University of South Carolina, Charleston, SC, USA.
² Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA.
³ Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁴ Laboratory for Molecular Medicine, Partners Healthcare, Cambridge, MA, USA. hrehm@broadinstitute.org.
⁵ Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. hrehm@broadinstitute.org.
⁶ Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. hrehm@broadinstitute.org.

No abstract available

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