Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet.

Peng JiaLianhua DongXiaofei YangBo WangStephen J BushTingjie WangJiadong LinSongbo WangXixi ZhaoTun XuYizhuo CheNingxin DangLuyao RenYujing ZhangXia WangFan LiangYang WangJue RuanHan XiaYuanting ZhengLeming ShiYi LvJing WangKai Ye

Published in: Genome biology (2023)

In summary, this study provides high-quality haplotype-resolved assemblies and a comprehensive set of benchmarking resources for two Chinese monozygotic twin samples which, relative to existing benchmarks, offers expanded genomic coverage and insight into complex variant categories.

Keyphrases

copy number
gene expression
dna methylation
affordable care act