Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

作者: Natasha T. Strande , Sarah E. Brnich , Tamara S. Roman , Jonathan S. Berg

DOI: 10.1038/S41436-018-0100-Y

关键词:

摘要: Understanding clinical genetic test results in the era of next-generation sequencing has become increasingly complex, necessitating clear and thorough guidelines for sequence variant interpretation. To meet this need American College Medical Genetics Genomics (ACMG) Association Molecular Pathology (AMP) published a systematic approach interpretation 2015. This framework is intended to be adaptable any Mendelian condition, promoting transparency consistency interpretation, yet its comprehensive nature yields important challenges caveats that end users must understand. In review, we address some these nuances discuss evolving efforts refine adapt framework. We also consider added complexity distinguishing between variant-level interpretations case-level conclusions, particularly context large gene panel diagnostics.

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