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

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}

Affiliations

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.

PMID: 30670879
PMCID: PMC7233466
DOI: 10.1038/s41436-018-0432-7

Comment

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

Annie Niehaus et al. Genet Med. 2019 Aug.

. 2019 Aug;21(8):1699-1701.

doi: 10.1038/s41436-018-0432-7. Epub 2019 Jan 23.

Authors

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}

Affiliations

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.

PMID: 30670879
PMCID: PMC7233466
DOI: 10.1038/s41436-018-0432-7

No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of Interests

The authors received NIH funding in support of this work.

Comment on

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.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.

References

1. Richards S, Aziz N, Bale S, et al. 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. Genet Med 2015, 17(5), 405. - PMC - PubMed
1. Rehm HL, Berg JS, Brooks LD, et al. ClinGen—the clinical genome resource. New England Journal of Medicine 2015, 372(23), 2235–2242. - PMC - PubMed
1. Amendola LM, Dorschner MO, Robertson RD, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome research 2015, gr-183483. - PMC - PubMed
1. Nykamp K, Anderson M, Powers M, et al. Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria. Genet Med 2017, 19(10), 1105. - PMC - PubMed
1. Jarvik GP, Browning BL. Consideration of cosegregation in the pathogenicity classification of genomic variants. The American Journal of Human Genetics 2016, 98(6), 1077–1081. - PMC - PubMed

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions

Grants and funding

U41 HG006834/HG/NHGRI NIH HHS/United States

LinkOut - more resources

Full Text Sources

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

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

Affiliations

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

Authors

Affiliations

Conflict of interest statement

Comment on

References

Publication types

MeSH terms

Substances

Grants and funding

LinkOut - more resources

Full Text Sources