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Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders

29 Apr 2019

Abstract excerpt

In 2015, the American College of Medical Genetics and Genomics (ACMG), together with the Association for Molecular Pathology (AMP), published the latest guidelines for the interpretation of sequence variants, which have been widely adopted into clinical practice. Despite these standardized efforts, the degrees of subjectivity and uncertainty allowed by the guidelines can lead to inconsistent variant...

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PMID: 31037860
DOI: 10.3343/alm.2019.39.5.421

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