Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
- PMID: 31015575
- PMCID: PMC6559819
- DOI: 10.1038/s41436-019-0478-1
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
Keywords: genome; reanalysis; reclassification; reevaluation; variant.
References
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- 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
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- 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
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- 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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