Article

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

2021-06-07

Abstract excerpt

The repetitive nature and complexity of multiple medically important genes make them intractable to accurate analysis, despite the maturity of short-read sequencing, resulting in a gap in clinical applications of genome sequencing. The Genome in a Bottle Consortium has provided benchmark variant sets, but these excluded some medically relevant genes due to their repetitiveness or polymorphic complexity. In this st...

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Literature Corpus work: 5567b759-aad5-5692-aa27-e6201cde6ec3
DOI: 10.1101/2021.06.07.444885

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