The future of genomic medicine is here

Por Karczewski, Konrad J
Publicado em 2013

Progress in genomics according to bingo: 2013 edition

Por Karczewski, Konrad J
Publicado em 2013

Performance of genomic medicine

Por Karczewski, Konrad J, Montgomery, Stephen B
Publicado em 2013

Chapter 7: Pharmacogenomics

Por Karczewski, Konrad J., Daneshjou, Roxana, Altman, Russ B.
Publicado em 2012

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

Por Boland, Mary Regina, Karczewski, Konrad J., Tatonetti, Nicholas P.
Publicado no PLoS Comput Biol (2017)

Evidence That Personal Genome Testing Enhances Student Learning in a Course on Genomics and Personalized Medicine

Por Salari, Keyan, Karczewski, Konrad J., Hudgins, Louanne, Ormond, Kelly E.
Publicado em 2013

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

Por Karczewski, Konrad J., Snyder, Michael, Altman, Russ B., Tatonetti, Nicholas P.
Publicado em 2014

Efficient genotype compression and analysis of large genetic variation datasets

Por Layer, Ryan M., Kindlon, Neil, Karczewski, Konrad J., Quinlan, Aaron R.
Publicado no Nat Methods (2015)

Bioinformatics challenges for personalized medicine

Por Fernald, Guy Haskin, Capriotti, Emidio, Daneshjou, Roxana, Karczewski, Konrad J., Altman, Russ B.
Publicado em 2011

Extensive genetic variation in somatic human tissues

Por O’Huallachain, Maeve, Karczewski, Konrad J., Weissman, Sherman M., Urban, Alexander Eckehart, Snyder, Michael P.
Publicado em 2012

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

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

Cooperative transcription factor associations discovered using regulatory variation

Por Karczewski, Konrad J., Tatonetti, Nicholas P., Landt, Stephen G., Yang, Xinqiong, Slifer, Teri, Altman, Russ B., Snyder, Michael
Publicado em 2011

Systematic functional regulatory assessment of disease-associated variants

Por Karczewski, Konrad J., Dudley, Joel T., Kukurba, Kimberly R., Chen, Rong, Butte, Atul J., Montgomery, Stephen B., Snyder, Michael
Publicado em 2013

Performance comparison of exome DNA sequencing technologies

Por Clark, Michael J, Chen, Rui, Lam, Hugo Y K, Karczewski, Konrad J, Chen, Rong, Euskirchen, Ghia, Butte, Atul J, Snyder, Michael
Publicado em 2011

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

Por Balasubramanian, Suganthi, Fu, Yao, Pawashe, Mayur, McGillivray, Patrick, Jin, Mike, Liu, Jeremy, Karczewski, Konrad J., MacArthur, Daniel G., Gerstein, Mark
Publicado no Nat Commun (2017)

INTERPRETOME: A FREELY AVAILABLE, MODULAR, AND SECURE PERSONAL GENOME INTERPRETATION ENGINE

Por KARCZEWSKI, KONRAD J., TIRRELL, ROBERT P., CORDERO, PABLO, TATONETTI, NICHOLAS P., DUDLEY, JOEL T., SALARI, KEYAN, SNYDER, MICHAEL, ALTMAN, RUSS B., KIM, STUART K.
Publicado no Pac Symp Biocomput (2012)

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

Por Tsang, Emily K., Abell, Nathan S., Li, Xin, Anaya, Vanessa, Karczewski, Konrad J., Knowles, David A., Sierra, Raymond G., Smith, Kevin S., Montgomery, Stephen B.
Publicado no G3 (Bethesda) (2016)

Transcriptome Sequencing of a Large Human Family Identifies the Impact of Rare Noncoding Variants

Por 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.
Publicado em 2014

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

Por 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.
Publicado no Nat Genet (2016)

Annotation of functional variation in personal genomes using RegulomeDB

Por 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
Publicado em 2012