端粒
基因组
人类基因组
生物
参考基因组
1000基因组计划
遗传学
计算生物学
进化生物学
基因型
DNA
基因
单核苷酸多态性
作者
Karen H. Miga,Evan E. Eichler
标识
DOI:10.1016/j.ajhg.2023.09.011
摘要
Advances in long-read sequencing and assembly now mean that individual labs can generate phased genomes that are more accurate and more contiguous than the original human reference genome. With declining costs and increasing democratization of technology, we suggest that complete genome assemblies, where both parental haplotypes are phased telomere to telomere, will become standard in human genetics. Soon, even in clinical settings where rigorous sample-handling standards must be met, affected individuals could have reference-grade genomes fully sequenced and assembled in just a few hours given advances in technology, computational processing, and annotation. Complete genetic variant discovery will transform how we map, catalog, and associate variation with human disease and fundamentally change our understanding of the genetic diversity of all humans.
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