The future of genomic medicine is here

por Karczewski, Konrad J
Publicado 2013

Progress in genomics according to bingo: 2013 edition

por Karczewski, Konrad J
Publicado 2013

Performance of genomic medicine

por Karczewski, Konrad J, Montgomery, Stephen B
Publicado 2013

Chapter 7: Pharmacogenomics

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

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

por Boland, Mary Regina, Karczewski, Konrad J., Tatonetti, Nicholas P.
Publicado 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 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 2014

Efficient genotype compression and analysis of large genetic variation datasets

por Layer, Ryan M., Kindlon, Neil, Karczewski, Konrad J., Quinlan, Aaron R.
Publicado 2015

Bioinformatics challenges for personalized medicine

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

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

por Gupta, Rahul, Karczewski, Konrad J, Howrigan, Daniel, Neale, Benjamin M, Mootha, Vamsi K
Publicado 2021

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 2014

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 2017

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 2016

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

por Zhou, Wei, Bi, Wenjian, Zhao, Zhangchen, Dey, Kushal K., Jagadeesh, Karthik A., Karczewski, Konrad J., Daly, Mark J., Neale, Benjamin M., Lee, Seunggeun
Publicado 2022

Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests

por Zhou, Wei, Bi, Wenjian, Zhao, Zhangchen, Dey, Kushal K., Jagadeesh, Karthik A., Karczewski, Konrad J., Daly, Mark J., Neale, Benjamin M., Lee, Seunggeun
Publicado 2022

Discordant calls across genotype discovery approaches elucidate variants with systematic errors

por Atkinson, Elizabeth G., Artomov, Mykyta, Loboda, Alexander A., Rehm, Heidi L., MacArthur, Daniel G., Karczewski, Konrad J., Neale, Benjamin M., Daly, Mark J.
Publicado 2023

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 2014

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

por Zhang, Sidi, Samocha, Kaitlin E., Rivas, Manuel A., Karczewski, Konrad J., Daly, Emma, Schmandt, Ben, Neale, Benjamin M., MacArthur, Daniel G., Daly, Mark J.
Publicado 2018

CHARR efficiently estimates contamination from DNA sequencing data

por Lu, Wenhan, Gauthier, Laura D., Poterba, Timothy, Giacopuzzi, Edoardo, Goodrich, Julia K., Stevens, Christine R., King, Daniel, Daly, Mark J., Neale, Benjamin M., Karczewski, Konrad J.
Publicado 2023

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 2016