Performance comparison of exome DNA sequencing technologies von Snyder, Michael, Clark, Michael J, Chen, Rui, Lam, Hugo Y K, Karczewski, Konrad J, Chen, Rong, Euskirchen, Ghia, Butte, Atul J

Volltext

Deep convolutional neural networks for accurate somatic mutation detection von Sahraeian, Sayed Mohammad Ebrahim, Liu, Ruolin, Lau, Bayo, Podesta, Karl, Mohiyuddin, Marghoob, Lam, Hugo Y. K.

Volltext

Performance comparison of whole-genome sequencing platforms von Lam, Hugo Y K, Clark, Michael J, Chen, Rui, Chen, Rong, Natsoulis, Georges, O'Huallachain, Maeve, Dewey, Frederick E, Habegger, Lukas, Ashley, Euan A, Gerstein, Mark B, Butte, Atul J, Ji, Hanlee P, Snyder, Michael

Volltext

A comprehensive map of mobile element insertion polymorphisms in humans von Stewart, Chip, Kural, Deniz, Strömberg, Michael P, Walker, Jerilyn A, Konkel, Miriam K, Stütz, Adrian M, Urban, Alexander E, Grubert, Fabian, Lam, Hugo Y K, Lee, Wan-Ping, Busby, Michele, Indap, Amit R, Garrison, Erik, Huff, Chad, Xing, Jinchuan, Snyder, Michael P, Jorde, Lynn B, Batzer, Mark A, Korbel, Jan O, Marth, Gabor T

Volltext

Measuring the evolutionary rewiring of biological networks von Shou, Chong, Bhardwaj, Nitin, Lam, Hugo Y K, Yan, Koon-Kiu, Kim, Philip M, Snyder, Michael, Gerstein, Mark B

Volltext

Deciphering protein kinase specificity through large-scale analysis of yeast phosphorylation site motifs von Mok, Janine, Kim, Philip M, Lam, Hugo Y K, Piccirillo, Stacy, Zhou, Xiuqiong, Jeschke, Grace R, Sheridan, Douglas L, Parker, Sirlester A, Desai, Ved, Jwa, Miri, Cameroni, Elisabetta, Niu, Hengyao, Good, Matthew, Remenyi, Attila, Ma, Jia-Lin Nianhan, Sheu, Yi-Jun, Sassi, Holly E, Sopko, Richelle, Chan, Clarence S M, De Virgilio, Claudio, Hollingsworth, Nancy M, Lim, Wendell A, Stern, David F, Stillman, Bruce, Andrews, Brenda J, Gerstein, Mark B, Snyder, Michael, Turk, Benjamin E

Volltext

Circular DNA elements of chromosomal origin are common in healthy human somatic tissue von Møller, Henrik Devitt, Mohiyuddin, Marghoob, Prada-Luengo, Iñigo, Sailani, M. Reza, Halling, Jens Frey, Plomgaard, Peter, Maretty, Lasse, Hansen, Anders Johannes, Snyder, Michael P., Pilegaard, Henriette, Lam, Hugo Y. K., Regenberg, Birgitte

Volltext

Gaining comprehensive biological insight into the transcriptome by performing a broad-spectrum RNA-seq analysis von Sahraeian, Sayed Mohammad Ebrahim, Mohiyuddin, Marghoob, Sebra, Robert, Tilgner, Hagen, Afshar, Pegah T., Au, Kin Fai, Bani Asadi, Narges, Gerstein, Mark B., Wong, Wing Hung, Snyder, Michael P., Schadt, Eric, Lam, Hugo Y. K.

Volltext

Analysis of genomic variation in non-coding elements using population-scale sequencing data from the 1000 Genomes Project von Mu, Xinmeng Jasmine, Lu, Zhi John, Kong, Yong, Lam, Hugo Y K, Gerstein, Mark B

Volltext

ecTMB: a robust method to estimate and classify tumor mutational burden von Yao, Lijing, Fu, Yao, Mohiyuddin, Marghoob, Lam, Hugo Y. K.

Volltext

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing von Mohiyuddin, Marghoob, Mu, John C, Li, Jian, Bani Asadi, Narges, Gerstein, Mark B, Abyzov, Alexej, Wong, Wing H, Lam, Hugo Y K

Volltext

Mitral regurgitation severity at left ventricular assist device implantation is associated with distinct myocardial transcriptomic signatures von Duggal, Neal M., Lei, Ienglam, Wu, Xiaoting, Aaronson, Keith D., Pagani, Francis D., Lam, Hugo Y.-K., Tang, Paul C., Haft, Jonathan W., Romano, Matthew A., Bolling, Steven F., Abou El Ela, Ashraf, Janda, Allison, Ailawadi, Gorav, Nordsletten, David

Volltext

svclassify: a method to establish benchmark structural variant calls von Parikh, Hemang, Mohiyuddin, Marghoob, Lam, Hugo Y K, Iyer, Hariharan, Chen, Desu, Pratt, Mark, Bartha, Gabor, Spies, Noah, Losert, Wolfgang, Zook, Justin M, Salit, Marc

Volltext

Mapping copy number variation by population-scale genome sequencing von Mills, Ryan E., Walter, Klaudia, Stewart, Chip, Handsaker, Robert E., Chen, Ken, Alkan, Can, Abyzov, Alexej, Yoon, Seungtai Chris, Ye, Kai, Cheetham, R. Keira, Chinwalla, Asif, Conrad, Donald F., Fu, Yutao, Grubert, Fabian, Hajirasouliha, Iman, Hormozdiari, Fereydoun, Iakoucheva, Lilia M., Iqbal, Zamin, Kang, Shuli, Kidd, Jeffrey M., Konkel, Miriam K., Korn, Joshua, Khurana, Ekta, Kural, Deniz, Lam, Hugo Y. K., Leng, Jing, Li, Ruiqiang, Li, Yingrui, Lin, Chang-Yun, Luo, Ruibang, Mu, Xinmeng Jasmine, Nemesh, James, Peckham, Heather E., Rausch, Tobias, Scally, Aylwyn, Shi, Xinghua, Stromberg, Michael P., Stütz, Adrian M., Urban, Alexander Eckehart, Walker, Jerilyn A., Wu, Jiantao, Zhang, Yujun, Zhang, Zhengdong D., Batzer, Mark A., Ding, Li, Marth, Gabor T., McVean, Gil, Sebat, Jonathan, Snyder, Michael, Wang, Jun, Ye, Kenny, Eichler, Evan E., Gerstein, Mark B., Hurles, Matthew E., Lee, Charles, McCarroll, Steven A., Korbel, Jan O.

Volltext

An ensemble approach to accurately detect somatic mutations using SomaticSeq von Fang, Li Tai, Afshar, Pegah Tootoonchi, Chhibber, Aparna, Mohiyuddin, Marghoob, Fan, Yu, Mu, John C, Gibeling, Greg, Barr, Sharon, Asadi, Narges Bani, Gerstein, Mark B, Koboldt, Daniel C, Wang, Wenyi, Wong, Wing H, Lam, Hugo Y K

Volltext

MOTIPS: automated motif analysis for predicting targets of modular protein domains von Lam, Hugo Y K, Kim, Philip M, Mok, Janine, Tonikian, Raffi, Sidhu, Sachdev S, Turk, Benjamin E, Snyder, Michael, Gerstein, Mark B

Volltext

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms von Abyzov, Alexej, Li, Shantao, Kim, Daniel Rhee, Mohiyuddin, Marghoob, Stütz, Adrian M., Parrish, Nicholas F., Mu, Xinmeng Jasmine, Clark, Wyatt, Chen, Ken, Hurles, Matthew, Korbel, Jan O., Lam, Hugo Y. K., Lee, Charles, Gerstein, Mark B.

Volltext

Genome-wide identification of binding sites defines distinct functions for Caenorhabditis elegans PHA-4/FOXA in development and environmental response von Zhong, Mei, Niu, Wei, Lu, Zhi John, Sarov, Mihail, Murray, John I, Janette, Judith, Raha, Debasish, Sheaffer, Karyn L, Lam, Hugo Y K, Preston, Elicia, Slightham, Cindie, Hillier, LaDeana W, Brock, Trisha, Agarwal, Ashish, Auerbach, Raymond, Hyman, Anthony A, Gerstein, Mark, Mango, Susan E, Kim, Stuart K, Waterston, Robert H, Reinke, Valerie, Snyder, Michael

Volltext

Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library von Korbel, Jan O, Gerstein, Mark B, Lam, Hugo Y K, Mu, Xinmeng Jasmine, Stütz, Adrian M, Tanzer, Andrea, Cayting, Philip D, Snyder, Michael, Kim, Philip M

Volltext

VarSim: a high-fidelity simulation and validation framework for high-throughput genome sequencing with cancer applications von Mu, John C, Mohiyuddin, Marghoob, Li, Jian, Bani Asadi, Narges, Gerstein, Mark B, Abyzov, Alexej, Wong, Wing H, Lam, Hugo Y K

Volltext