Comprehensive variant discovery in the era of complete human reference genomes.

Comprehensive variant discovery in the era of complete human reference genomes.
复制标题

DOI:
10.1038/s41592-022-01740-8
复制
发表时间:
2023-01
期刊:
影响因子:
48
通讯作者:
Miga, Karen H.
Miga, Karen H.
中科院分区:
生物学1区
文献类型:
--
作者:
Cechova, Monika;Miga, Karen H.

文献摘要

参考文献

相似文献

长读段测序技术的进步拓宽了我们对人类遗传变异的理解,发现了新的复杂结构变异,并提供了阐明新变异与疾病关系的机会。
Advances in long-read sequencing technologies have broadened our understanding of genetic variation in the human population, uncovered new complex structural variants and offered an opportunity to elucidate new variant associations with disease.
DOI: 10.1126/science.abj6987
发表时间: 2022-04
期刊: SCIENCE
影响因子: 56.9
作者:
Nurk, Sergey;Koren, Sergey;Rhie, Arang;Rautiainen, Mikko;Bzikadze, Andrey V;Mikheenko, Alla;Vollger, Mitchell R;Altemose, Nicolas;Uralsky, Lev;Gershman, Ariel;Aganezov, Sergey;Hoyt, Savannah J;Diekhans, Mark;Logsdon, Glennis A;Alonge, Michael;Antonarakis, Stylianos E;Borchers, Matthew;Bouffard, Gerard G;Brooks, Shelise Y;Caldas, Gina V;Chen, Nae-Chyun;Cheng, Haoyu;Chin, Chen-Shan;Chow, William;de Lima, Leonardo G;Dishuck, Philip C;Durbin, Richard;Dvorkina, Tatiana;Fiddes, Ian T;Formenti, Giulio;Fulton, Robert S;Fungtammasan, Arkarachai;Garrison, Erik;Grady, Patrick G S;Graves-Lindsay, Tina A;Hall, Ira M;Hansen, Nancy F;Hartley, Gabrielle A;Haukness, Marina;Howe, Kerstin;Hunkapiller, Michael W;Jain, Chirag;Jain, Miten;Jarvis, Erich D;Kerpedjiev, Peter;Kirsche, Melanie;Kolmogorov, Mikhail;Korlach, Jonas;Kremitzki, Milinn;Li, Heng;Maduro, Valerie V;Marschall, Tobias;McCartney, Ann M;McDaniel, Jennifer;Miller, Danny E;Mullikin, James C;Myers, Eugene W;Olson, Nathan D;Paten, Benedict;Peluso, Paul;Pevzner, Pavel A;Porubsky, David;Potapova, Tamara;Rogaev, Evgeny I;Rosenfeld, Jeffrey A;Salzberg, Steven L;Schneider, Valerie A;Sedlazeck, Fritz J;Shafin, Kishwar;Shew, Colin J;Shumate, Alaina;Sims, Ying;Smit, Arian F A;Soto, Daniela C;Sovic, Ivan;Storer, Jessica M;Streets, Aaron;Sullivan, Beth A;Thibaud-Nissen, Francoise;Torrance, James;Wagner, Justin;Walenz, Brian P;Wenger, Aaron;Wood, Jonathan M D;Xiao, Chunlin;Yan, Stephanie M;Young, Alice C;Zarate, Samantha;Surti, Urvashi;McCoy, Rajiv C;Dennis, Megan Y;Alexandrov, Ivan A;Gerton, Jennifer L;O'Neill, Rachel J;Timp, Winston;Zook, Justin M;Schatz, Michael C;Eichler, Evan E;Miga, Karen H;Phillippy, Adam M
通讯作者: Phillippy, Adam M
DOI: 10.1038/nmeth.1459
发表时间: 2010-06
期刊: NATURE METHODS
影响因子: 48
作者:
Flusberg, Benjamin A.;Webster, Dale R.;Lee, Jessica H.;Travers, Kevin J.;Olivares, Eric C.;Clark, Tyson A.;Korlach, Jonas;Turner, Stephen W.
通讯作者: Turner, Stephen W.
DOI: 10.1038/s41436-020-0880-8
发表时间: 2020-11
期刊: Genetics in medicine : official journal of the American College of Medical Genetics
影响因子: --
作者:
Thibodeau ML;O'Neill K;Dixon K;Reisle C;Mungall KL;Krzywinski M;Shen Y;Lim HJ;Cheng D;Tse K;Wong T;Chuah E;Fok A;Sun S;Renouf D;Schaeffer DF;Cremin C;Chia S;Young S;Pandoh P;Pleasance S;Pleasance E;Mungall AJ;Moore R;Yip S;Karsan A;Laskin J;Marra MA;Schrader KA;Jones SJM
通讯作者: Jones SJM
DOI: 10.1146/annurev-genom-120219-080406
发表时间: 2020-08-31
影响因子: 8.7
作者:
Eizenga JM;Novak AM;Sibbesen JA;Heumos S;Ghaffaari A;Hickey G;Chang X;Seaman JD;Rounthwaite R;Ebler J;Rautiainen M;Garg S;Paten B;Marschall T;Sirén J;Garrison E
通讯作者: Garrison E
DOI: 10.1038/nature04634
发表时间: 2006-04-13
期刊: NATURE
影响因子: 64.8
作者:
Houstis, N;Rosen, ED;Lander, ES
通讯作者: Lander, ES