Chapter 7: Pharmacogenomics.

by Konrad J Karczewski, Konrad J Karczewski, Roxana Daneshjou, Russ B Altman
Published 2012-01-01

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

by Mary Regina Boland, Konrad J Karczewski, Nicholas P Tatonetti
Published 2017-01-01

Evidence that personal genome testing enhances student learning in a course on genomics and personalized medicine.

by Keyan Salari, Konrad J Karczewski, Louanne Hudgins, Kelly E Ormond
Published 2013-01-01

Coherent functional modules improve transcription factor target identification, cooperativity prediction, and disease association.

by Konrad J Karczewski, Michael Snyder, Russ B Altman, Nicholas P Tatonetti
Published 2014-02-01

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

by Rahul Gupta, Konrad J Karczewski, Daniel Howrigan, Benjamin M Neale, Vamsi K Mootha
Published 2021-09-01

STORMSeq: an open-source, user-friendly pipeline for processing personal genomics data in the cloud.

by Konrad J Karczewski, Guy Haskin Fernald, Alicia R Martin, Michael Snyder, Nicholas P Tatonetti, Joel T Dudley
Published 2014-01-01

Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes

by Suganthi Balasubramanian, Yao Fu, Mayur Pawashe, Patrick McGillivray, Mike Jin, Jeremy Liu, Konrad J. Karczewski, Daniel G. MacArthur, Mark Gerstein
Published 2017-08-01

Small RNA Sequencing in Cells and Exosomes Identifies eQTLs and 14q32 as a Region of Active Export

by Emily K. Tsang, Nathan S. Abell, Xin Li, Vanessa Anaya, Konrad J. Karczewski, David A. Knowles, Raymond G. Sierra, Kevin S. Smith, Stephen B. Montgomery
Published 2017-01-01

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

by Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Published 2021-02-01

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

by Qingbo Wang, Emma Pierce-Hoffman, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier, Andrew J. Hill, Anne H. O’Donnell-Luria, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Konrad J. Karczewski, Daniel G. MacArthur
Published 2020-05-01

Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration[S]

by Matthew B. Lanktree, Clara C. Elbers, Yun Li, Guosheng Zhang, Qing Duan, Konrad J. Karczewski, Yiran Guo, Vinicius Tragante, Kari E. North, Mary Cushman, Folkert W. Asselbergs, James G. Wilson, Leslie A. Lange, Fotios Drenos, Alex P. Reiner, Michael R. Barnes, Brendan J. Keating
Published 2015-09-01

Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

by Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Published 2021-02-01

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

by Nicola Whiffin, Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans, Angharad M. Roberts, Nicholas M. Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H. O’Donnell-Luria, Laurent C. Francioli, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, Stuart A. Cook, Paul J. R. Barton, Daniel G. MacArthur, James S. Ware
Published 2020-05-01

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

by Frederick E Dewey, Rong Chen, Sergio P Cordero, Kelly E Ormond, Colleen Caleshu, Konrad J Karczewski, Michelle Whirl-Carrillo, Matthew T Wheeler, Joel T Dudley, Jake K Byrnes, Omar E Cornejo, Joshua W Knowles, Mark Woon, Katrin Sangkuhl, Li Gong, Caroline F Thorn, Joan M Hebert, Emidio Capriotti, Sean P David, Aleksandra Pavlovic, Anne West, Joseph V Thakuria, Madeleine P Ball, Alexander W Zaranek, Heidi L Rehm, George M Church, John S West, Carlos D Bustamante, Michael Snyder, Russ B Altman, Teri E Klein, Atul J Butte, Euan A Ashley
Published 2011-09-01

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

by Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Published 2019-05-01

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

by Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Graham Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Published 2018-05-01