Author

Konrad J Karczewski

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genomics· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-exome sequencing· 3 Research Focus:variant effect prediction· 2 Research Focus:database / resource· 1 Approach:experimental assay· 1 Research Focus:genome assembly· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Daniel G MacArthur· 2 shared Kaitlin E Samocha· 2 shared Mark J Daly· 2 shared Aaron R Quinlan· 1 shared Anis Memon· 1 shared Anne H ODonnell-Luria· 1 shared Asif Rasheed· 1 shared Atif Imran· 1 shared

Activity by Year

2015-2016 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 28 mutual co-author links

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2 shared papersGenomics

Daniel G MacArthur

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3 papers

Recent·Most cited

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

Konrad J Karczewski, Ben Weisburd, Brett Thomas, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings, Daniel Birnbaum, The Exome Aggregation Consortium, Mark J Daly, Daniel G MacArthur

The paper introduces an open-source browser for displaying genetic variation data from 60,706 exomes, focusing on variant interpretation and gene function.

Nucleic Acids Research · Nov 28, 2016Peer-reviewedGenomics

Efficient genotype compression and analysis of large genetic variation datasets

Ryan M Layer, Neil Kindlon, Konrad J Karczewski, Exome Aggregation Consortium ExAC, Aaron R Quinlan

This paper introduces GQT, a compressed genotype indexing strategy that improves analysis speed and performance on large genetic datasets.

Nature Methods · Jan 1, 2016Peer-reviewedGenomics

Human knockouts in a cohort with a high rate of consanguinity

Danesh Saleheen, Pradeep Natarajan, Wei Zhao, Asif Rasheed, Sumeet Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H ODonnell-Luria, Kaitlin E Samocha, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, , Sekar Kathiresan

The paper identifies homozygous null mutations in 961 genes in a consanguineous Pakistani cohort and reports their phenotypic consequences.

bioRxiv · Nov 12, 2015Genomics