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Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations

2022-08-05

Abstract excerpt

<h4>ABSTRACT</h4> Numerous challenging medically relevant genes (CMRGs) cannot be adequately investigated using next-generation sequencing, hindering the detection of functional variation among these genes. In this study, long-read sequencing data from 41 human individuals across 19 populations were analyzed using the current version of the human reference genome assembly (GRCh38) and a telomere-to-telomere assem...

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Literature Corpus work: 32d81e8f-9313-5881-a489-01c6f5490665
DOI: 10.1101/2022.08.03.502734

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