Konrad Jan Karczewski, Ph.D.
This page shows the publications Konrad Karczewski has written about Open Reading Frames.
Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum. Am J Hum Genet. 2018 06 07; 102(6):1204-1211.
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 2020 05 27; 11(1):2523.
Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012 Sep; 22(9):1790-7.
Performance comparison of exome DNA sequencing technologies. Nat Biotechnol. 2011 Sep 25; 29(10):908-14.
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