作者
Zev Kronenberg,Ian T. Fiddes,David Gordon,Shwetha C. Murali,Stuart Cantsilieris,Olivia S. Meyerson,Jason G. Underwood,Bradley J. Nelson,Mark Chaisson,Max L. Dougherty,Katherine M. Munson,Alex Hastie,Mark Diekhans,Fereydoun Hormozdiari,Nicola Lorusso,Kendra Hoekzema,Ruolan Qiu,Karen Clark,Archana N. Raja,AnneMarie E. Welch,Melanie Sorensen,Carl Baker,Robert S. Fulton,Joel Armstrong,Tina A. Graves-Lindsay,Ahmet M. Denli,Emma R. Hoppe,PingHsun Hsieh,C. Hill,Andy Wing Chun Pang,Joyce Lee,Ernest T. Lam,Susan K. Dutcher,Fred H. Gage,Wesley C. Warren,Jay Shendure,David Haussler,Valérie Schneider,Han Cao,Mario Ventura,Richard K. Wilson,Benedict Paten,Alex A. Pollen,Evan E. Eichler
摘要
A spotlight on great ape genomes Most nonhuman primate genomes generated to date have been “humanized” owing to their many gaps and the reliance on guidance by the reference human genome. To remove this humanizing effect, Kronenberg et al. generated and assembled long-read genomes of a chimpanzee, an orangutan, and two humans and compared them with a previously generated gorilla genome. This analysis recognized genomic structural variation specific to humans and particular ape lineages. Comparisons between human and chimpanzee cerebral organoids showed down-regulation of the expression of specific genes in humans, relative to chimpanzees, related to noncoding variation identified in this analysis. Science , this issue p. eaar6343