作者
Mark JP Chaisson, John Huddleston, Megan Y Dennis, Peter H Sudmant, Maika Malig, Fereydoun Hormozdiari, Francesca Antonacci, Urvashi Surti, Richard Sandstrom, Matthew Boitano, Jane M Landolin, John A Stamatoyannopoulos, Michael W Hunkapiller, Jonas Korlach, Evan E Eichler
发表日期
2015/1/29
期刊
Nature
卷号
517
期号
7536
页码范围
608-611
出版商
Nature Publishing Group UK
简介
The human genome is arguably the most complete mammalian reference assembly,,, yet more than 160 euchromatic gaps remain,, and aspects of its structural variation remain poorly understood ten years after its completion,,. To identify missing sequence and genetic variation, here we sequence and analyse a haploid human genome (CHM1) using single-molecule, real-time DNA sequencing. We close or extend 55% of the remaining interstitial gaps in the human GRCh37 reference genome—78% of which carried long runs of degenerate short tandem repeats, often several kilobases in length, embedded within (G+C)-rich genomic regions. We resolve the complete sequence of 26,079 euchromatic structural variants at the base-pair level, including inversions, complex insertions and long tracts of tandem repeats. Most have not been previously reported, with the greatest increases in sensitivity occurring for events …
引用总数
2015201620172018201920202021202220232024621071191041018794786828
学术搜索中的文章