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Author Details

Konrad J Karczewski
Broad Institute of MIT and Harvard
2010
85
38
PMIDPaper TitleJournal TitlePublished Year
36747613A harmonized public resource of deeply sequenced diverse human genomes.bioRxiv2024
38057664A genomic mutational constraint map using variation in 76,156 human genomes.Nature2024
38057443Inferring compound heterozygosity from large-scale exome sequencing data.Nat Genet2024
36747613A harmonized public resource of deeply sequenced diverse human genomes.bioRxiv2024
38057664A genomic mutational constraint map using variation in 76,156 human genomes.Nature2024
38057443Inferring compound heterozygosity from large-scale exome sequencing data.Nat Genet2024
36755099Polygenic architecture of rare coding variation across 394,783 exomes.Nature2023
37604963GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.Nat Genet2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
38000370CHARR efficiently estimates contamination from DNA sequencing data.Am J Hum Genet2023
37808854Hematologic setpoints are a stable and patient-specific deep phenotype.medRxiv2023
37633279Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.Am J Hum Genet2023
36653560Mono- and biallelic variant effects on disease at biobank scale.Nature2023
36653343Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nat Commun2023
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
36945502Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv2023
36755099Polygenic architecture of rare coding variation across 394,783 exomes.Nature2023
37253541Discordant calls across genotype discovery approaches elucidate variants with systematic errors.Genome Res2023
36993580Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv2023
36732776LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.BioData Min2023
37425834CHARR efficiently estimates contamination from DNA sequencing data.bioRxiv2023
37633279Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.Am J Hum Genet2023
37587338Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.Nature2023
38000370CHARR efficiently estimates contamination from DNA sequencing data.Am J Hum Genet2023
37604963GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.Nat Genet2023
37808854Hematologic setpoints are a stable and patient-specific deep phenotype.medRxiv2023
37425834CHARR efficiently estimates contamination from DNA sequencing data.bioRxiv2023
36993580Inferring compound heterozygosity from large-scale exome sequencing data.bioRxiv2023
37253541Discordant calls across genotype discovery approaches elucidate variants with systematic errors.Genome Res2023
36945502Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data.medRxiv2023
36653560Mono- and biallelic variant effects on disease at biobank scale.Nature2023
36653343Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nat Commun2023
36711677Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.medRxiv2023
36732776LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants and genes.BioData Min2023
35176222Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.Cell Stem Cell2022
35396579Rare coding variants in ten genes confer substantial risk for schizophrenia.Nature2022
36138231SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.Nat Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
36257984Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.Nat Genet2022
35176222Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.Cell Stem Cell2022
35396579Rare coding variants in ten genes confer substantial risk for schizophrenia.Nature2022
36138231SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.Nat Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
36257984Publisher Correction: SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.Nat Genet2022
33006441Population based frequency of naturally occurring loss-of-function variants in genes associated with platelet disorders.J Thromb Haemost2021
33536627Author Correction: A structural variation reference for medical and population genetics.Nature2021
33536628Author Correction: Evaluating drug targets through human loss-of-function genetic variation.Nature2021
33536625Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.Nature2021
33462486Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.Nat Genet2021
34022131Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Am J Hum Genet2021
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Mark J Daly
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Benjamin M Neale
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Anne O'Donnell-Luria
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Co-authored papers 16
Monkol Lek
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Kaitlin E Samocha
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Michael Snyder
Stanford University
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Laura Gauthier
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Eric Vallabh Minikel
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Co-authored papers 10
Russ B Altman
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Grace Tiao
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Beryl B Cummings
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Ben Weisburd
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Eric Banks
Broad Institute of MIT and Harvard
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Manuel A Rivas
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Andrea Ganna
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James S Ware
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Namrata Gupta
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Mitja I Kurki
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Jessica Alföldi
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Aarno Palotie
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Moriel Singer-Berk
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Nicholas P Tatonetti
Columbia Universtiy College of Physicians and Surgeons
Co-authored papers 7
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 7
Brendan J Keating
Perelman School of Medicine, University of Pennsylvania
Co-authored papers 6
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 6
Christine Stevens
Co-authored papers 6
Jack A Kosmicki
Regeneron Pharmaceuticals
Co-authored papers 6
Daniel Birnbaum
Co-authored papers 6
Release 1.2