Konrad J. Karczewski

发表

Genome Analysis

Russ B. Altman, Emidio Capriotti, Roxana Daneshjou, 2011, Bioinform..

The impact of rare variation on gene expression across tissues

Gao Wang, Mary Goldman, Brian Craft, 2016, Nature.

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

Nicholas P. Tatonetti, Mary Regina Boland, Konrad J. Karczewski, 2017, PLoS Comput. Biol..

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

Bioinformatics challenges for personalized medicine

Russ B. Altman, Emidio Capriotti, Roxana Daneshjou, 2011, Bioinform..

The ExAC browser: displaying reference data information from over 60 000 exomes

Daniel G. MacArthur, Daniel Birnbaum, Konrad J. Karczewski, 2016, bioRxiv.

Chapter 7: Pharmacogenomics

Russ B. Altman, Roxana Daneshjou, Konrad J. Karczewski, 2012, PLoS Comput. Biol..

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies

Konrad J. Karczewski, Benjamin M. Neale, Yukinori Okada, 2020, bioRxiv.

Efficient compression and analysis of large genetic variation datasets

Aaron R. Quinlan, Ryan M. Layer, Konrad J. Karczewski, 2015 .

The ExAC Browser: Displaying reference data information from over 60,000 exomes

Daniel G. MacArthur, Konrad J. Karczewski, Beryl B. Cummings, 2016 .

Interpretome: A Freely Available, Modular, and Secure Personal Genome Interpretation Engine

Russ B. Altman, Joel Dudley, Nicholas P. Tatonetti, 2011, Pacific Symposium on Biocomputing.

Bioinformatics challenges for personalized medicine

Russ B. Altman, Emidio Capriotti, Roxana Daneshjou, 2011, Bioinform..

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015 .

Mendelian randomization of blood lipids for coronary heart disease

Alex P. Reiner, Tom R. Gaunt, Fotios Drenos, 2014, European heart journal.

A New System for Comparative Functional Genomics of Saccharomyces Yeasts

Manuel Llinás, David Botstein, Yuanfang Guan, 2013, Genetics.

Quantifying prion disease penetrance using large population control cohorts

Patrick F. Sullivan, Karen L. Mohlke, M. Arfan Ikram, 2016, Science Translational Medicine.

Quantifying the unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects

Gregory Valiant, Paul Valiant, Daniel G. MacArthur, 2015 .

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

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

An open resource of structural variation for medical and population genetics

Grace Tiao, Daniel G. MacArthur, Ryan L. Collins, 2019 .

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

Konrad J. Karczewski, Keyan Salari, Kelly E. Ormond, 2013, PloS one.

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Mary Goldman, Brian Craft, Jingchun Zhu, 2016, Nature Communications.

Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies

Marylyn D. Ritchie, Shefali S. Verma, Kelly A. Birdwell, 2015, Genome Medicine.

Efficient genotype compression and analysis of large genetic variation datasets

Aaron R. Quinlan, Ryan M. Layer, Konrad J. Karczewski, 2015, Nature Methods.

Quantifying supercoiling-induced denaturation bubbles in DNA

Giovanni Dietler, Ralf Metzler, Konrad J. Karczewski, 2012 .

Health and population effects of rare gene knockouts in adult humans with related parents

Harry Hemingway, Richard Durbin, Daniel G. MacArthur, 2015, Science.

Integrative omics for health and disease

Konrad J. Karczewski, K. Karczewski, M. Snyder, 2018, Nature Reviews Genetics.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Francesco Muntoni, Daniel G. MacArthur, Konrad J. Karczewski, 2016, Science Translational Medicine.

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

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Daniel G. MacArthur, Konrad J. Karczewski, Danish Saleheen, 2017, Nature.