Publications by authors named "Konrad J Karczewski"

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Widespread naturally variable human exons aid genetic interpretation.
Hannah N Jacobs, Bram L Gorissen, Jeremy Guez, Masahiro Kanai, Kavi Gupta, Konrad J Karczewski

Nat Commun· December 2025

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Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.
Ulrik Kristoffer Stoltze, Thomas van Overeem Hansen, Jon Foss-Skiftesvik, Anna Byrjalsen, Kasper Amund Henriksen, Konrad J Karczewski

Clin Cancer Res· November 2025

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The Coronary Artery Disease Risk Locus Modulates Vascular Cell-State Transitions via Enhancer-Driven Regulation of .
Timothy N Audam, Benjamin Schmandt, Yi Huang, Young Beum Cho, Mayank Murali, Konrad J Karczewski

bioRxiv· November 2025

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Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
Konrad J Karczewski, Rahul Gupta, Masahiro Kanai, Wenhan Lu, Kristin Tsuo

Nat Genet· October 2025

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Improved allele frequencies in gnomAD through local ancestry inference.
Pragati Kore, Michael W Wilson, Grace Tiao, Katherine Chao, Philip W Darnowsky, Konrad J Karczewski

Nat Commun· October 2025

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Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.
Julia M Sealock, Franjo Ivankovic, Calwing Liao, Siwei Chen, Claire Churchhouse, Konrad J Karczewski

Nat Protoc· September 2025

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Improved Allele Frequencies in gnomAD through Local Ancestry Inference.
Pragati Kore, Michael W Wilson, Grace Tiao, Katherine Chao, Philip W Darnowsky, Konrad J Karczewski

bioRxiv· June 2025

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Mechanism of age-related accumulation of mitochondrial DNA mutations in human blood.
Rahul Gupta, Timothy J Durham, Grant Chau, Md Mesbah Uddin, Wenhan Lu, Konrad J Karczewski

bioRxiv· May 2025

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Analysis-ready VCF at Biobank scale using Zarr.
Eric Czech, Timothy R Millar, Will Tyler, Tom White, Benjamin Elsworth, Konrad J Karczewski

bioRxiv· February 2025

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Haematological setpoints are a stable and patient-specific deep phenotype.
Brody H Foy, Rachel Petherbridge, Maxwell T Roth, Cindy Zhang, Daniel C De Souza, Konrad J Karczewski

Nature· January 2025

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Cell Painting for cytotoxicity and mode-of-action analysis in primary human hepatocytes.
Jessica D Ewald, Katherine L Titterton, Alex Bäuerle, Alex Beatson, Daniil A Boiko, Konrad J Karczewski

bioRxiv· January 2025

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Analysis-ready VCF at Biobank scale using Zarr.
Eric Czech, Will Tyler, Tom White, Ben Jeffery, Timothy R Millar, Konrad J Karczewski

Gigascience· January 2025

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The scalable variant call representation: enabling genetic analysis beyond one million genomes.
Timothy Poterba, Christopher Vittal, Daniel King, Daniel Goldstein, Jacqueline I Goldstein, Konrad J Karczewski

Bioinformatics· December 2024

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Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.
Caitlin E Carey, Rebecca Shafee, Robbee Wedow, Amanda Elliott, Duncan S Palmer, Konrad J Karczewski

Nat Hum Behav· August 2024

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A harmonized public resource of deeply sequenced diverse human genomes.
Zan Koenig, Mary T Yohannes, Lethukuthula L Nkambule, Xuefang Zhao, Julia K Goodrich, Konrad J Karczewski

Genome Res· June 2024

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Author Correction: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.
Rahul Gupta, Masahiro Kanai, Timothy J Durham, Kristin Tsuo, Jason G McCoy, Konrad J Karczewski

Nature· June 2024

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The landscape of regional missense mutational intolerance quantified from 125,748 exomes.
Katherine R Chao, Lily Wang, Ruchit Panchal, Calwing Liao, Haneen Abderrazzaq, Konrad J Karczewski

bioRxiv· May 2024

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Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Mehrtash Babadi, Jack M Fu, Samuel K Lee, Andrey N Smirnov, Laura D Gauthier, Konrad J Karczewski

Nat Genet· March 2024

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Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes.
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Konrad J Karczewski

Nature· February 2024

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The evolutionary impact of childhood cancer on the human gene pool.
Ulrik Kristoffer Stoltze, Jon Foss-Skiftesvik, Thomas van Overeem Hansen, Simon Rasmussen, Konrad J Karczewski

Nat Commun· February 2024

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Inferring compound heterozygosity from large-scale exome sequencing data.
Michael H Guo, Laurent C Francioli, Sarah L Stenton, Julia K Goodrich, Nicholas A Watts, Konrad J Karczewski

Nat Genet· January 2024

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A genomic mutational constraint map using variation in 76,156 human genomes.
Siwei Chen, Laurent C Francioli, Julia K Goodrich, Ryan L Collins, Masahiro Kanai, Konrad J Karczewski

Nature· January 2024

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The Scalable Variant Call Representation: Enabling Genetic Analysis Beyond One Million Genomes.
Timothy Poterba, Christopher Vittal, Daniel King, Daniel Goldstein, Jacqueline I Goldstein, Konrad J Karczewski

bioRxiv· January 2024

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CHARR efficiently estimates contamination from DNA sequencing data.
Wenhan Lu, Laura D Gauthier, Timothy Poterba, Edoardo Giacopuzzi, Julia K Goodrich, Konrad J Karczewski

Am J Hum Genet· December 2023

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Hematologic setpoints are a stable and patient-specific deep phenotype.
Brody H Foy, Rachel Petherbridge, Maxwell Roth, Christopher Mow, Hasmukh R Patel, Konrad J Karczewski

medRxiv· September 2023

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