Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

by Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, MacArthur, Daniel G., Sunyaev, Shamil R., Daly, Mark J.
Published 2017

Landscape of X chromosome inactivation across human tissues

by Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.
Published 2018

Efficient genotype compression and analysis of large genetic variation datasets

by Layer, Ryan M., Kindlon, Neil, Karczewski, Konrad J., Quinlan, Aaron R.
Published 2016

Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing

by Boland, Mary Regina, Karczewski, Konrad J., Tatonetti, Nicholas P.
Published 2017

STORMSeq: An Open-Source, User-Friendly Pipeline for Processing Personal Genomics Data in the Cloud

by Karczewski, Konrad J., Fernald, Guy Haskin, Martin, Alicia R., Snyder, Michael, Tatonetti, Nicholas P., Dudley, Joel T.
Published 2014

Landscape of X chromosome inactivation across human tissues

by Tukiainen, Taru, Villani, Alexandra-Chloé, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Aguet, François, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Yen, Angela, Regev, Aviv
Published 2018

Coherent Functional Modules Improve Transcription Factor Target Identification, Cooperativity Prediction, and Disease Association

by Karczewski, Konrad J., Snyder, Michael, Altman, Russ B., Tatonetti, Nicholas P.
Published 2014

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

by Merkle, Florian T, Ghosh, Sulagna, Genovese, Giulio, Handsaker, Robert E, Kashin, Seva, Meyer, Daniel, Karczewski, Konrad J, O'Dushlaine, Colm, Pato, Carlos, Pato, Michele, MacArthur, Daniel G, McCarroll, Steven A, Eggan, Kevin
Published 2022

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

by Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.
Published 2016

The ExAC browser: displaying reference data information from over 60 000 exomes

by Karczewski, Konrad J., Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M., Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E., Cummings, Beryl B., Birnbaum, Daniel, Daly, Mark J., MacArthur, Daniel G.
Published 2017

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

by Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
Published 2017

Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

by Kosmicki, Jack A., Samocha, Kaitlin E., Howrigan, Daniel P., Sanders, Stephan J., Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J., Cutler, David J., Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D., Neale, Benjamin M., MacArthur, Daniel G., Wall, Dennis P., Robinson, Elise B., Daly, Mark J.
Published 2017

Pathway analysis of genome-wide data improves warfarin dose prediction

by Klein, Teri E., Altman, Russ B., Johnson, Julie A., Perera, Minoli, Daneshjou, Roxana, Tatonetti, Nicholas P., Karczewski, Konrad J., Sagreiya, Hersh, Bourgeois, Stephane, Drozda, Katarzyna, Burmester, James K., Tsunoda, Tatsuhiko, Nakamura, Yusuke, Kubo, Michiaki, Tector, Matthew, Limdi, Nita A., Cavallari, Larisa H.
Published 2013

Using high-resolution variant frequencies to empower clinical genome interpretation

by Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S
Published 2017

Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

by Dewey, Frederick E, Chen, Rong, Cordero, Sergio P, Ormond, Kelly E, Caleshu, Colleen, Karczewski, Konrad J, Whirl-Carrillo, Michelle, Wheeler, Matthew T, Dudley, Joel T, Byrnes, Jake K, Cornejo, Omar E, Knowles, Joshua W, Woon, Mark, Sangkuhl, Katrin, Gong, Li, Thorn, Caroline F, Hebert, Joan M, Capriotti, Emidio, David, Sean P, Pavlovic, Aleksandra, West, Anne, Thakuria, Joseph V, Ball, Madeleine P, Zaranek, Alexander W, Rehm, Heidi L, Church, George M, West, John S, Bustamante, Carlos D, Snyder, Michael, Altman, Russ B, Klein, Teri E, Butte, Atul J, Ashley, Euan A
Published 2011

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

by Dewey, Frederick E., Chen, Rong, Cordero, Sergio P., Ormond, Kelly E., Caleshu, Colleen, Karczewski, Konrad J., Whirl-Carrillo, Michelle, Wheeler, Matthew T., Dudley, Joel T., Byrnes, Jake K., Cornejo, Omar E., Knowles, Joshua W., Woon, Mark, Sangkuhl, Katrin, Gong, Li, Thorn, Caroline F., Hebert, Joan M., Capriotti, Emidio, David, Sean P., Pavlovic, Aleksandra, West, Anne, Thakuria, Joseph V., Ball, Madeleine P., Zaranek, Alexander W., Rehm, Heidi, Church, George, West, John S., Bustamante, Carlos D., Snyder, Michael, Altman, Russ B., Klein, Teri E., Butte, Atul J., Ashley, Euan A.
Published 2022

Analysis of protein-coding genetic variation in 60,706 humans.

by Lek, Monkol, Karczewski, Konrad J, Minikel, Eric V, Samocha, Kaitlin E, Banks, Eric, Fennell, Timothy, O'Donnell-Luria, Anne H, Ware, James S, Hill, Andrew J, Cummings, Beryl B, Tukiainen, Taru, Birnbaum, Daniel P, Kosmicki, Jack A, Duncan, Laramie E, Estrada, Karol, Zhao, Fengmei, Zou, James, Pierce-Hoffman, Emma, Berghout, Joanne, Cooper, David N, Deflaux, Nicole, DePristo, Mark, Do, Ron, Flannick, Jason, Fromer, Menachem, Gauthier, Laura, Goldstein, Jackie, Gupta, Namrata, Howrigan, Daniel, Kiezun, Adam, Kurki, Mitja I, Moonshine, Ami Levy, Natarajan, Pradeep, Orozco, Lorena, Peloso, Gina M, Poplin, Ryan, Rivas, Manuel A, Ruano-Rubio, Valentin, Rose, Samuel A, Ruderfer, Douglas M, Shakir, Khalid, Stenson, Peter D, Stevens, Christine, Thomas, Brett P, Tiao, Grace, Tusie-Luna, Maria T, Weisburd, Ben, Won, Hong-Hee, Yu, Dongmei, Altshuler, David M, Ardissino, Diego, Boehnke, Michael, Danesh, John, Donnelly, Stacey, Elosua, Roberto, Florez, Jose C, Gabriel, Stacey B, Getz, Gad, Glatt, Stephen J, Hultman, Christina M, Kathiresan, Sekar, Laakso, Markku, McCarroll, Steven, McCarthy, Mark I, McGovern, Dermot, McPherson, Ruth, Neale, Benjamin M, Palotie, Aarno, Purcell, Shaun M, Saleheen, Danish, Scharf, Jeremiah M, Sklar, Pamela, Sullivan, Patrick F, Tuomilehto, Jaakko, Tsuang, Ming T, Watkins, Hugh C, Wilson, James G, Daly, Mark J, MacArthur, Daniel G, Exome Aggregation Consortium
Published 2016