The ExAC browser: displaying reference data information from over 60 000 exomes
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 in Nucleic acids research (04.01.2017)
Published in Nucleic acids research (04.01.2017)
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Journal Article
Annotation of functional variation in personal genomes using RegulomeDB
Boyle, Alan P, Hong, Eurie L, Hariharan, Manoj, Cheng, Yong, Schaub, Marc A, Kasowski, Maya, Karczewski, Konrad J, Park, Julie, Hitz, Benjamin C, Weng, Shuai, Cherry, J Michael, Snyder, Michael
Published in Genome research (01.09.2012)
Published in Genome research (01.09.2012)
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Journal Article
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power
Atkinson, Elizabeth G., Maihofer, Adam X., Kanai, Masahiro, Martin, Alicia R., Karczewski, Konrad J., Santoro, Marcos L., Ulirsch, Jacob C., Kamatani, Yoichiro, Okada, Yukinori, Finucane, Hilary K., Koenen, Karestan C., Nievergelt, Caroline M., Daly, Mark J., Neale, Benjamin M.
Published in Nature genetics (01.02.2021)
Published in Nature genetics (01.02.2021)
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Journal Article
Polygenic architecture of rare coding variation across 394,783 exomes
Weiner, Daniel J., Nadig, Ajay, Jagadeesh, Karthik A., Dey, Kushal K., Neale, Benjamin M., Robinson, Elise B., Karczewski, Konrad J., O’Connor, Luke J.
Published in Nature (London) (16.02.2023)
Published in Nature (London) (16.02.2023)
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Journal Article
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
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 in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Journal Article
Performance comparison of exome DNA sequencing technologies
Snyder, Michael, Clark, Michael J, Chen, Rui, Lam, Hugo Y K, Karczewski, Konrad J, Chen, Rong, Euskirchen, Ghia, Butte, Atul J
Published in Nature biotechnology (01.10.2011)
Published in Nature biotechnology (01.10.2011)
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Journal Article
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes
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 in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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Journal Article
Bioinformatics challenges for personalized medicine
Fernald, Guy Haskin, Capriotti, Emidio, Daneshjou, Roxana, Karczewski, Konrad J., Altman, Russ B.
Published in Bioinformatics (01.07.2011)
Published in Bioinformatics (01.07.2011)
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Journal Article
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
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
Published in Cell (16.03.2012)
Published in Cell (16.03.2012)
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Journal Article
Variation in Transcription Factor Binding among Humans
Kasowski, Maya, Grubert, Fabian, Heffelfinger, Christopher, Hariharan, Manoj, Asabere, Akwasi, Waszak, Sebastian M., Habegger, Lukas, Rozowsky, Joel, Shi, Minyi, Urban, Alexander E., Hong, Mi-Young, Karczewski, Konrad J., Huber, Wolfgang, Weissman, Sherman M., Gerstein, Mark B., Korbel, Jan O., Snyder, Michael
Published in Science (American Association for the Advancement of Science) (09.04.2010)
Published in Science (American Association for the Advancement of Science) (09.04.2010)
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Journal Article
The evolutionary impact of childhood cancer on the human gene pool
Stoltze, Ulrik Kristoffer, Foss-Skiftesvik, Jon, Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, Konrad J., Wadt, Karin A. W., Schmiegelow, Kjeld
Published in Nature communications (29.02.2024)
Published in Nature communications (29.02.2024)
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Journal Article
Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine
Salari, Keyan, Karczewski, Konrad J, Hudgins, Louanne, Ormond, Kelly E
Published in PloS one (23.07.2013)
Published in PloS one (23.07.2013)
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Journal Article
Ten Simple Rules to Enable Multi-site Collaborations through Data Sharing
Boland, Mary Regina, Karczewski, Konrad J, Tatonetti, Nicholas P
Published in PLoS computational biology (01.01.2017)
Published in PLoS computational biology (01.01.2017)
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Journal Article
Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark
Published in Nature communications (29.08.2017)
Published in Nature communications (29.08.2017)
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Journal Article
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes
Montgomery, Stephen B, Goode, David L, Kvikstad, Erika, Albers, Cornelis A, Zhang, Zhengdong D, Mu, Xinmeng Jasmine, Ananda, Guruprasad, Howie, Bryan, Karczewski, Konrad J, Smith, Kevin S, Anaya, Vanessa, Richardson, Rhea, Davis, Joe, MacArthur, Daniel G, Sidow, Arend, Duret, Laurent, Gerstein, Mark, Makova, Kateryna D, Marchini, Jonathan, McVean, Gil, Lunter, Gerton
Published in Genome research (01.05.2013)
Published in Genome research (01.05.2013)
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Journal Article
Human genetic analyses of organelles highlight the nucleus in age-related trait heritability
Gupta, Rahul, Karczewski, Konrad J, Howrigan, Daniel, Neale, Benjamin M, Mootha, Vamsi K
Published in eLife (01.09.2021)
Published in eLife (01.09.2021)
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Journal Article
Systematic functional regulatory assessment of disease-associated variants
Karczewski, Konrad J., Dudley, Joel T., Kukurba, Kimberly R., Chen, Rong, Butte, Atul J., Montgomery, Stephen B., Snyder, Michael
Published in Proceedings of the National Academy of Sciences - PNAS (04.06.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (04.06.2013)
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Journal Article
Chapter 7: Pharmacogenomics
Karczewski, Konrad J, Daneshjou, Roxana, Altman, Russ B
Published in PLoS computational biology (01.12.2012)
Published in PLoS computational biology (01.12.2012)
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Journal Article
Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants
Li, Xin, Battle, Alexis, Karczewski, Konrad J., Zappala, Zach, Knowles, David A., Smith, Kevin S., Kukurba, Kim R., Wu, Eric, Simon, Noah, Montgomery, Stephen B.
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article