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Haplotype-resolved diverse human genomes and integrated analysis of structural variation 期刊论文
Science, 2021
作者:  Peter Ebert;  Peter A. Audano;  Qihui Zhu;  Bernardo Rodriguez-Martin;  David Porubsky;  Marc Jan Bonder;  Arvis Sulovari;  Jana Ebler;  Weichen Zhou;  Rebecca Serra Mari;  Feyza Yilmaz;  Xuefang Zhao;  PingHsun Hsieh;  Joyce Lee;  Sushant Kumar;  Jiadong Lin;  Tobias Rausch;  Yu Chen;  Jingwen Ren;  Martin Santamarina;  Wolfram Höps;  Hufsah Ashraf;  Nelson T. Chuang;  Xiaofei Yang;  Katherine M. Munson;  Alexandra P. Lewis;  Susan Fairley;  Luke J. Tallon;  Wayne E. Clarke;  Anna O. Basile;  Marta Byrska-Bishop;  André Corvelo;  Uday S. Evani;  Tsung-Yu Lu;  Mark J. P. Chaisson;  Junjie Chen;  Chong Li;  Harrison Brand;  Aaron M. Wenger;  Maryam Ghareghani;  William T. Harvey;  Benjamin Raeder;  Patrick Hasenfeld;  Allison A. Regier;  Haley J. Abel;  Ira M. Hall;  Paul Flicek;  Oliver Stegle;  Mark B. Gerstein;  Jose M. C. Tubio;  Zepeng Mu;  Yang I. Li;  Xinghua Shi;  Alex R. Hastie;  Kai Ye;  Zechen Chong;  Ashley D. Sanders;  Michael C. Zody;  Michael E. Talkowski;  Ryan E. Mills;  Scott E. Devine;  Charles Lee;  Jan O. Korbel;  Tobias Marschall;  Evan E. Eichler
收藏  |  浏览/下载：26/0  |  提交时间：2021/04/06
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder 期刊论文
SCIENCE, 2018, 362 (6420) : 1270-+
作者:  An, Joon-Yong;  Lin, Kevin;  Zhu, Lingxue;  Werling, Donna M.;  Dong, Shan;  Brand, Harrison;  Wang, Harold Z.;  Zhao, Xuefang;  Schwartz, Grace B.;  Collins, Ryan L.;  Currall, Benjamin B.;  Dastmalchi, Claudia;  Dea, Jeanselle;  Duhn, Clif;  Gilson, Michael C.;  Klei, Lambertus;  Liang, Lindsay;  Markenscoff-Papadimitriou, Eirene;  Pochareddy, Sirisha;  Ahituv, Nadav;  Buxbaum, Joseph D.;  Coon, Hilary;  Daly, Mark J.;  Kim, Young Shin;  Marth, Gabor T.;  Neale, Benjamin M.;  Quinlan, Aaron R.;  Rubenstein, John L.;  Sestan, Nenad;  State, Matthew W.;  Willsey, A. Jeremy;  Talkowski, Michael E.;  Devlin, Bernie;  Roeder, Kathryn;  Sanders, Stephan J.
收藏  |  浏览/下载：11/0  |  提交时间：2019/11/27