Articles by K. J. Karczewski | Synthical

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16

CHARR efficiently estimates contamination from DNA sequencing data

23 November 2023 by Weiwei Lü and others

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

16 August 2023 by Rinav Gupta and others

Genetic and Genomic Medicine

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants

2 February 2023 by A. Alasiri and others at

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

3 November 2022 by G. Butler-Laporte and others at

McGill University

Infectious Diseases

Human genetic analyses of organelles highlight the nucleus in age-related trait heritability

1 September 2021 by Rinav Gupta and others at

Harvard Medical School

Tractor: A framework allowing for improved inclusion of admixed individuals in large-scale association studies.

18 January 2021 by E. Atkinson and others

An open resource of structural variation for medical and population genetics

27 May 2020 by R. Collins and others at

Massachusetts General Hospital

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

27 May 2020 by K. Karczewski and others

Evaluating potential drug targets through human loss-of-function genetic variation

27 May 2020 by E. Minikel and others at

Broad Institute

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinsons disease

27 May 2020 by Nicola Whiffin and others at

Broad Institute

Transcript expression-aware annotation improves rare variant discovery and interpretation

27 May 2020 by B. Cummings and others

Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals

27 May 2020 by Nicola Whiffin and others at

Imperial College London

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

27 May 2020 by Qingyao Wang and others

Base-Specific Mutational Intolerance Near Splice-Sites Clarifies Role Of Non-Essential Splice Nucleotides

1 June 2018 by shenghao zhang and others at

Harvard University

Haplotype sharing provides insights into fine-scale population history and disease in Finland

25 April 2018 by A. Martin and others at

Massachusetts General Hospital

Determining the impact of putative loss-of-function variants in protein-coding genes

29 August 2017 by Srinivas Balasubramanian and others at

Yale University

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Genomics Bioinformatics Genetic and Genomic Medicine Infectious Diseases Genetics