Konrad J Karczewski on Muck Rack

Konrad J Karczewski

Boston
As seen in: Nature, Genome Biology, BioRxiv, Cell Press, Cell Stem Cell, The World Bank Research Observer, medRxiv, Texas Medical Center
Assistant Professor at MGH and the Broad Institute, gnomAD aficionado, Co-author: Exploring Personal Genomics: www.amazon.com/gp/aw/d/0199644497
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Articles

Pan-UK Biobank Genome-Wide Association Analyses Enhance Discovery and Resolution of Ancestry-Enriched Effects

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By Konrad J Karczewski
| Texas Medical Center
Publication Date 10-1-2025 DOI 10.1038/s41588-025-02335-7 PubMedCentral® Posted Date 5-22-2026 PubMedCentral® Full Text Version Author MSS Abstract Large biobanks, such as the UK Biobank (UKB), enable massive phenome by genome-wide association studies that elucidate genetic etiology of complex traits. However, individuals from diverse genetic ancestry groups are often excluded from association analyses due to concerns about population structure introducing false positive associations.
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Alternate RNA decoding results in stable and abundant proteins in mammals

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By Shira Tsour, Rainer Machne, Andrew Leduc, Simon Widmer Verified, Jeremy Guez, Konrad J Karczewski, Nikolai Slavov, Eunice Koo
| Nature Verified
Abstract Amino acid substitutions may substantially alter protein stability and function1,2. However, the contribution of substitutions that arise from alternate translation (deviations from the genetic code) is unknown. Here to address this issue, we analysed deep proteomic, transcriptomic and genomic data from more than 1,000 human samples, including 6 cancer types and 26 healthy human tissues.
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Mechanism of age-related accumulation of mtDNA mutations in human blood

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By Rahul Gupta Verified, Timothy Durham, Grant Chau, Masahiro Kanai, Mesbah Uddin, Wenhan Lu, M. Austin Argentieri, Konrad J Karczewski, Daniel P. Howrigan, Pradeep Natarajan, Wei Zhou, Benjamin M. Neale, Vamsi K. Mootha
| Nature Verified
Abstract Accumulation of mutant mitochondrial DNA (mtDNA) heteroplasmy is among the strongest signatures of ageing1. Here we investigated the underlying mechanism by calling mtDNA sequence, mtDNA abundance and mtDNA heteroplasmic variants in human blood using whole-genome sequences from approximately 750,000 individuals.
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