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. 2019 Jun;21(6):1267-1270.
doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Affiliations

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L Deignan et al. Genet Med. 2019 Jun.
No abstract available

Keywords: genome; reanalysis; reclassification; reevaluation; variant.

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References

    1. David KL et al.; ACMG Social Ethical Legal Issues Committee. Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018. December 22. - PubMed
    1. Farwell KD et al., Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015. July;17(7):578–86. - PubMed
    1. Ghosh R et al. Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guideline.Genome Biol. 2017. November 28;18(1):225. - PMC - PubMed
    1. Harrison SM et al.,; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group. Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018. November;39(11):1641–1649. - PMC - PubMed
    1. Kearney HM et al.; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011. July;13(7):680–5. - PubMed

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