Konrad J. Karczewski · researcher · YYNN

Konrad J. Karczewski

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researcher

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Works
7

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

scientific article

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

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

preprint published 25 September 2016

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations

scientific article published on 17 December 2013

Annotation of functional variation in personal genomes using RegulomeDB

scientific article (publication date: September 2012)

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

scientific article published on April 2017

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

scientific article published in 2022

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