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Konrad J. Karczewski's indexed work centers on human genomics, with a focus on quantifying mutational constraint across human populations and its implications for disease. Their early first-author work includes developing the ExAC browser for displaying exome data (over 800 citations) and an integrative review of omics approaches for health and disease (over 1000 citations). More recently, their lead-author research has explored systematic single-variant and gene-based association testing in UK Biobank exomes and the creation of a genome-wide mutational constraint map from tens of thousands of human genomes. Publicly indexed outputs also highlight contributions to large-scale genomic initiatives. As a middle author, Karczewski contributed to an integrated encyclopedia of DNA elements in the human genome (over 14,000 citations) and an analysis of protein-coding genetic variation in over 60,000 humans (over 10,000 citations). This body of work consistently demonstrates an effort to characterize human genetic variation and its functional consequences, from foundational data resources to comprehensive association studies.
Alan P Boyle, Eurie L Hong, Manoj Hariharan, Yong Cheng, Marc A Schaub, Maya Kasowski, Konrad J Karczewski, Julie Park, Benjamin C Hitz, Shuai Weng, J Michael Cherry, Michael Snyder
Rui Chen, George I Mias, Jennifer Li-Pook-Than, Lihua Jiang, Hugo Y K Lam, Rong Chen, Elana Miriami, Konrad J Karczewski, Manoj Hariharan, Frederick E Dewey, Yong Cheng, Michael J Clark, Hogune Im, Lukas Habegger, Suganthi Balasubramanian, Maeve O'Huallachain, Joel T Dudley, Sara Hillenmeyer, Rajini Haraksingh, Donald Sharon, Ghia Euskirchen, Phil Lacroute, Keith Bettinger, Alan P Boyle, Maya Kasowski, Fabian Grubert, Scott Seki, Marco Garcia, Michelle Whirl-Carrillo, Mercedes Gallardo, Maria A Blasco, Peter L Greenberg, Phyllis Snyder, Teri E Klein, Russ B Altman, Atul J Butte, Euan A Ashley, Mark Gerstein, Kari C Nadeau, Hua Tang, Michael Snyder
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Qingbo Wang, Jessica Alföldi, Nicholas A Watts, Christopher Vittal, Laura D Gauthier, Timothy Poterba, Michael W Wilson, Yekaterina Tarasova, William Phu, Riley Grant, Mary T Yohannes, Zan Koenig, Yossi Farjoun, Eric Banks, Stacey Donnelly, Stacey Gabriel, Namrata Gupta, Steven Ferriera, Charlotte Tolonen, Sam Novod, Louis Bergelson, David Roazen, Valentin Ruano-Rubio, Miguel Covarrubias, Christopher Llanwarne, Nikelle Petrillo, Gordon Wade, Thibault Jeandet, Ruchi Munshi, Kathleen Tibbetts, Genome Aggregation Database Consortium, Anne O'Donnell-Luria, Matthew Solomonson, Cotton Seed, Alicia R Martin, Michael E Talkowski, Heidi L Rehm,
UK10K Consortium, Klaudia Walter, Josine L Min, Jie Huang, Lucy Crooks, Yasin Memari, Shane McCarthy, John R B Perry, ChangJiang Xu, Marta Futema, Daniel Lawson, Valentina Iotchkova, Stephan Schiffels, Audrey E Hendricks, Petr Danecek, Rui Li, James Floyd, Louise V Wain, Inês Barroso, Steve E Humphries, Matthew E Hurles, Eleftheria Zeggini, Jeffrey C Barrett, Vincent Plagnol, J Brent Richards, Celia M T Greenwood, Nicholas J Timpson, Richard Durbin, Nicole Soranzo
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