Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Por Handsaker, Robert E., Korn, Joshua M., Nemesh, James, McCarroll, Steven A.
Publicado no Nat Genet (2011)

Structural haplotypes and recent evolution of the human 17q21.31 region

Por Boettger, Linda M., Handsaker, Robert E., Zody, Michael C., McCarroll, Steven A.
Publicado em 2012

Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes

Por Genovese, Giulio, Handsaker, Robert E., Li, Heng, Kenny, Eimear E., McCarroll, Steven A.
Publicado em 2013

Genetic variation in human DNA replication timing

Por Koren, Amnon, Handsaker, Robert E., Kamitaki, Nolan, Karlić, Rosa, Ghosh, Sulagna, Polak, Paz, Eggan, Kevin, McCarroll, Steven A.
Publicado no Cell (2014)

Recurring exon deletions in the haptoglobin (HP) gene associate with lower blood cholesterol levels

Por Boettger, Linda M., Salem, Rany M., Handsaker, Robert E., Peloso, Gina, Kathiresan, Sekar, Hirschhorn, Joel, McCarroll, Steven A.
Publicado no Nat Genet (2016)

Large multi-allelic copy number variations in humans

Por Handsaker, Robert E., Van Doren, Vanessa, Berman, Jennifer R., Genovese, Giulio, Kashin, Seva, Boettger, Linda M., McCarroll, Steven A.
Publicado no Nat Genet (2015)

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

Por Johnson, Andrew D., Handsaker, Robert E., Pulit, Sara L., Nizzari, Marcia M., O'Donnell, Christopher J., de Bakker, Paul I. W.
Publicado em 2008

The variant call format and VCFtools

Por Danecek, Petr, Auton, Adam, Abecasis, Goncalo, Albers, Cornelis A., Banks, Eric, DePristo, Mark A., Handsaker, Robert E., Lunter, Gerton, Marth, Gabor T., Sherry, Stephen T., McVean, Gilean, Durbin, Richard
Publicado em 2011

Using population admixture to help complete maps of the human genome

Por Genovese, Giulio, Handsaker, Robert E., Li, Heng, Altemose, Nicolas, Lindgren, Amelia M., Chambert, Kimberly, Pasaniuc, Bogdan, Price, Alkes L., Reich, David, Morton, Cynthia C., Pollak, Martin R., Wilson, James G., McCarroll, Steven A.
Publicado em 2013

Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

Por Fromer, Menachem, Moran, Jennifer L., Chambert, Kimberly, Banks, Eric, Bergen, Sarah E., Ruderfer, Douglas M., Handsaker, Robert E., McCarroll, Steven A., O’Donovan, Michael C., Owen, Michael J., Kirov, George, Sullivan, Patrick F., Hultman, Christina M., Sklar, Pamela, Purcell, Shaun M.
Publicado em 2012

Schizophrenia risk from complex variation of complement component 4

Por Sekar, Aswin, Bialas, Allison R., de Rivera, Heather, Davis, Avery, Hammond, Timothy R., Kamitaki, Nolan, Tooley, Katherine, Presumey, Jessy, Baum, Matthew, Van Doren, Vanessa, Genovese, Giulio, Rose, Samuel A., Handsaker, Robert E., Daly, Mark J., Carroll, Michael C., Stevens, Beth, McCarroll, Steven A.
Publicado no Nature (2016)

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes, and obesity

Por Usher, Christina L, Handsaker, Robert E, Esko, Tõnu, Tuke, Marcus A, Weedon, Michael N, Hastie, Alex R, Cao, Han, Moon, Jennifer E, Kashin, Seva, Fuchsberger, Christian, Metspalu, Andres, Pato, Carlos N, Pato, Michele T, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Frayling, Timothy M, Hirschhorn, Joel N, McCarroll, Steven A
Publicado no Nat Genet (2015)

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

Por Genovese, Giulio, Kähler, Anna K., Handsaker, Robert E., Lindberg, Johan, Rose, Samuel A., Bakhoum, Samuel F., Chambert, Kimberly, Mick, Eran, Neale, Benjamin M., Fromer, Menachem, Purcell, Shaun M., Svantesson, Oscar, Landén, Mikael, Höglund, Martin, Lehmann, Sören, Gabriel, Stacey B., Moran, Jennifer L., Lander, Eric S., Sullivan, Patrick F., Sklar, Pamela, Grönberg, Henrik, Hultman, Christina M., McCarroll, Steven A.
Publicado no N Engl J Med (2014)

Pathways Disrupted in Human ALS Motor Neurons Identified Through Genetic Correction of Mutant SOD1

Por Kiskinis, Evangelos, Sandoe, Jackson, Williams, Luis A., Boulting, Gabriella L., Moccia, Rob, Wainger, Brian J., Han, Steve, Peng, Theodore, Thams, Sebastian, Mikkilineni, Shravani, Mellin, Cassidy, Merkle, Florian T., Davis-Dusenbery, Brandi N., Ziller, Michael, Oakley, Derek, Ichida, Justin, Dicostanza, Stefania, Atwater, Nick, Maeder, Morgan L., Goodwin, Mathew J., Nemesh, James, Handsaker, Robert E., Paull, Daniel, Noggle, Scott, McCarroll, Steven A., Joung, J. Keith, Woolf, Clifford J., Brown, Robert H, Eggan, Kevin
Publicado no Cell Stem Cell (2014)

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

Por Ganna, Andrea, Genovese, Giulio, Howrigan, Daniel P., Byrnes, Andrea, Kurki, Mitja, Zekavat, Seyedeh M., Whelan, Christopher W., Kals, Mart, Nivard, Michel G., Bloemendal, Alex, Bloom, Jonathan M., Goldstein, Jacqueline I., Poterba, Timothy, Seed, Cotton, Handsaker, Robert E., Natarajan, Pradeep, Mägi, Reedik, Gage, Diane, Robinson, Elise B., Metspalu, Andres, Salomaa, Veikko, Suvisaari, Jaana, Purcell, Shaun M., Sklar, Pamela, Kathiresan, Sekar, Daly, Mark J., McCarroll, Steven A., Sullivan, Patrick F., Palotie, Aarno, Esko, Tõnu, Hultman, Christina, Neale, Benjamin M.
Publicado no Nat Neurosci (2016)

Characteristics of de novo structural changes in the human genome

Por Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, van Ommen, GertJan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., de Bakker, Paul I.W., Ye, Kai, Guryev, Victor
Publicado no Genome Res (2015)

Mutations causing medullary cystic kidney disease type 1 (MCKD1) lie in a large VNTR in MUC1 missed by massively parallel sequencing

Por Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Barešová, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hůlková, Helena, Sovová, Jana, Vylet’al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey, Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Lander, Eric S., Daly, Mark J.
Publicado em 2013

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Por Poznik, G. David, Xue, Yali, Mendez, Fernando L., Willems, Thomas F., Massaia, Andrea, Wilson Sayres, Melissa A., Ayub, Qasim, McCarthy, Shane A., Narechania, Apurva, Kashin, Seva, Chen, Yuan, Banerjee, Ruby, Rodriguez-Flores, Juan L., Cerezo, Maria, Shao, Haojing, Gymrek, Melissa, Malhotra, Ankit, Louzada, Sandra, Desalle, Rob, Ritchie, Graham R. S., Cerveira, Eliza, Fitzgerald, Tomas W., Garrison, Erik, Marcketta, Anthony, Mittelman, David, Romanovitch, Mallory, Zhang, Chengsheng, Zheng-Bradley, Xiangqun, Abecasis, Goncalo R., McCarroll, Steven A., Flicek, Paul, Underhill, Peter A., Coin, Lachlan, Zerbino, Daniel R., Yang, Fengtang, Lee, Charles, Clarke, Laura, Auton, Adam, Erlich, Yaniv, Handsaker, Robert E., Bustamante, Carlos D., Tyler-Smith, Chris
Publicado no Nat Genet (2016)

A systematic survey of loss-of-function variants in human protein-coding genes

Por MacArthur, Daniel G., Balasubramanian, Suganthi, Frankish, Adam, Huang, Ni, Morris, James, Walter, Klaudia, Jostins, Luke, Habegger, Lukas, Pickrell, Joseph K., Montgomery, Stephen B., Albers, Cornelis A., Zhang, Zhengdong, Conrad, Donald F., Lunter, Gerton, Zheng, Hancheng, Ayub, Qasim, DePristo, Mark A., Banks, Eric, Hu, Min, Handsaker, Robert E., Rosenfeld, Jeffrey, Fromer, Menachem, Jin, Mike, Mu, Xinmeng Jasmine, Khurana, Ekta, Ye, Kai, Kay, Mike, Saunders, Gary Ian, Suner, Marie-Marthe, Hunt, Toby, Barnes, If H.A., Amid, Clara, Carvalho-Silva, Denise R., Bignell, Alexandra H, Snow, Catherine, Yngvadottir, Bryndis, Bumpstead, Suzannah, Cooper, David N., Xue, Yali, Romero, Irene Gallego, Wang, Jun, Li, Yingrui, Gibbs, Richard A., McCarroll, Steven A., Dermitzakis, Emmanouil T., Pritchard, Jonathan K., Barrett, Jeffrey C., Harrow, Jennifer, Hurles, Matthew E., Gerstein, Mark B., Tyler-Smith, Chris
Publicado em 2012

Mapping copy number variation by population scale genome sequencing

Por 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, Kura, 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, Gobor 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.
Publicado em 2011