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

doi:10.1038/s41436-018-0432-7

Comment

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

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

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

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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.

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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

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[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

[2] 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

[3] 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

[4] 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

[5] 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

[6] 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

[7] 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

[8] 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

[9] 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

[10] 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

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

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

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