Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations
Yanfeng Ji, Jiao Gong, Fritz Joachim Sedlazeck, Shaohua Fan
The paper uses long-read sequencing to analyze genetic polymorphisms in 370 medically relevant genes across 41 individuals from 19 populations, identifying CNVs and variants missed by short-read sequencing.
bioRxiv · Aug 3, 2022 · PreprintGenomics