Comprehensive variant discovery in the era of complete human reference genomes.
Comprehensive variant discovery in the era of complete human reference genomes.
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DOI:
10.1038/s41592-022-01740-8
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发表时间:
2023-01
期刊:
影响因子:
48
通讯作者:
Miga, Karen H.
中科院分区:
文献类型:
--
作者:
Cechova, Monika;Miga, Karen H.
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.
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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
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
影响因子:
64.8
作者:
Houstis, N;Rosen, ED;Lander, ES
通讯作者:
Lander, ES