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

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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

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Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes von Chen, Rui, Mias, George I., Li-Pook-Than, Jennifer, Jiang, Lihua, Lam, Hugo Y.K., Chen, Rong, Miriami, Elana, Karczewski, Konrad J., Hariharan, Manoj, Dewey, Frederick E., Cheng, Yong, Clark, Michael J., Im, Hogune, Habegger, Lukas, Balasubramanian, Suganthi, O'Huallachain, Maeve, Dudley, Joel T., Hillenmeyer, Sara, Haraksingh, Rajini, Sharon, Donald, Euskirchen, Ghia, Lacroute, Phil, Bettinger, Keith, Boyle, Alan P., Kasowski, Maya, Grubert, Fabian, Seki, Scott, Garcia, Marco, Whirl-Carrillo, Michelle, Gallardo, Mercedes, Blasco, Maria A., Greenberg, Peter L., Snyder, Phyllis, Klein, Teri E., Altman, Russ B., Butte, Atul J., Ashley, Euan A., Gerstein, Mark, Nadeau, Kari C., Tang, Hua, Snyder, Michael

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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

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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

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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

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Detecting and annotating genetic variations using the HugeSeq pipeline von Lam, Hugo Y K, Pan, Cuiping, Clark, Michael J, Lacroute, Phil, Chen, Rui, Haraksingh, Rajini, O'Huallachain, Maeve, Gerstein, Mark B, Kidd, Jeffrey M, Bustamante, Carlos D, Snyder, Michael

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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

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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

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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

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Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history von Kim, Philip M, Lam, Hugo Y K, Urban, Alexander E, Korbel, Jan O, Affourtit, Jason, Grubert, Fabian, Chen, Xueying, Weissman, Sherman, Snyder, Michael, Gerstein, Mark B

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Segmental duplications in the human genome reveal details of pseudogene formation von Khurana, Ekta, Lam, Hugo Y.K, Cheng, Chao, Carriero, Nicholas, Cayting, Philip, Gerstein, Mark B

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Pseudofam: the pseudogene families database von Lam, Hugo Y.K, Khurana, Ekta, Fang, Gang, Cayting, Philip, Carriero, Nicholas, Cheung, Kei-Hoi, Gerstein, Mark B

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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

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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.

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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.

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Insights from incorporating quantum computing into drug design workflows von Lau, Bayo, Emani, Prashant S, Chapman, Jackson, Yao, Lijing, Lam, Tarsus, Merrill, Paul, Warrell, Jonathan, Gerstein, Mark B, Lam, Hugo Y K

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

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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.

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An integrated map of structural variation in 2,504 human genomes von Sudmant, Peter H., Rausch, Tobias, Gardner, Eugene J., Handsaker, Robert E., Abyzov, Alexej, Huddleston, John, Zhang, Yan, Ye, Kai, Jun, Goo, Hsi-Yang Fritz, Markus, Konkel, Miriam K., Malhotra, Ankit, Stütz, Adrian M., Shi, Xinghua, Paolo Casale, Francesco, Chen, Jieming, Hormozdiari, Fereydoun, Dayama, Gargi, Chen, Ken, Malig, Maika, Chaisson, Mark J. P., Walter, Klaudia, Meiers, Sascha, Kashin, Seva, Garrison, Erik, Auton, Adam, Lam, Hugo Y. K., Jasmine Mu, Xinmeng, Alkan, Can, Antaki, Danny, Bae, Taejeong, Cerveira, Eliza, Chines, Peter, Chong, Zechen, Clarke, Laura, Dal, Elif, Ding, Li, Emery, Sarah, Fan, Xian, Gujral, Madhusudan, Kahveci, Fatma, Kidd, Jeffrey M., Kong, Yu, Lameijer, Eric-Wubbo, McCarthy, Shane, Flicek, Paul, Gibbs, Richard A., Marth, Gabor, Mason, Christopher E., Menelaou, Androniki, Muzny, Donna M., Nelson, Bradley J., Noor, Amina, Parrish, Nicholas F., Pendleton, Matthew, Quitadamo, Andrew, Raeder, Benjamin, Schadt, Eric E., Romanovitch, Mallory, Schlattl, Andreas, Sebra, Robert, Shabalin, Andrey A., Untergasser, Andreas, Walker, Jerilyn A., Wang, Min, Yu, Fuli, Zhang, Chengsheng, Zhang, Jing, Zheng-Bradley, Xiangqun, Zhou, Wanding, Zichner, Thomas, Sebat, Jonathan, Batzer, Mark A., McCarroll, Steven A., Mills, Ryan E., Gerstein, Mark B., Bashir, Ali, Stegle, Oliver, Devine, Scott E., Lee, Charles, Eichler, Evan E., Korbel, Jan O.

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