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U54DK105566

Funded outputs count: 35
Funder award ID: U54DK105566
OpenAlex ID: G2512866349
Integrating 730,947 exome sequences with clinical literature improves gene discovery
2026 · Jeremy Guez, Julia K. Goodrich, et al. · medRxiv · 24
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A genomic mutational constraint map using variation in 76,156 human genomes
2023 · Siwei Chen, Laurent C. Francioli, et al. · Nature · 1,696
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Mitochondrial DNA variation across 56,434 individuals in gnomAD
2022 · Kristen M. Laricchia, Nicole J. Lake, et al. · Genome Research · 148
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Variant interpretation using population databases: Lessons from gnomAD
2021 · Sanna Gudmundsson, Moriel Singer‐Berk, et al. · Human Mutation · 675
Faculty Opinions recommendation of Transcript expression-aware annotation improves rare variant interpretation.
2021 · Aurélie Cobat · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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Faculty Opinions recommendation of The mutational constraint spectrum quantified from variation in 141,456 humans.
2020 · Nicola Mulder · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
2020 · Qingbo Wang, Emma Pierce-Hoffman, et al. · Nature Communications · 147
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Evaluating drug targets through human loss-of-function genetic variation
2020 · Eric Vallabh Minikel, Konrad J. Karczewski, et al. · Nature · 187
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The mutational constraint spectrum quantified from variation in 141,456 humans
2020 · Konrad J. Karczewski, Laurent C. Francioli, et al. · Nature · 9,361
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The effect of LRRK2 loss-of-function variants in humans
2020 · Nicola Whiffin, Irina M. Armean, et al. · Nature Medicine · 125
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Transcript expression-aware annotation improves rare variant interpretation
2020 · Beryl B. Cummings, Konrad J. Karczewski, et al. · Nature · 180
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
2020 · Nicola Whiffin, Konrad J Karczewski, et al. · Nature Communications · 179
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Quantifying prion disease penetrance using large population control cohorts
2020 · Cohen, Yvonne, Mizusawa, Hidehiro, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
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Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts
2019 · Christian Paludan-Müller, Jonas Ghouse, et al. · European Journal of Human Genetics · 13
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Transcript expression-aware annotation improves rare variant discovery and interpretation
2019 · Beryl B. Cummings, Konrad J. Karczewski, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 18
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The mutational constraint spectrum quantified from variation in 141,456 humans
2019 · Konrad J. Karczewski, Laurent C. Francioli, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1,604
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Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
2019 · Nicola Whiffin, Angharad M. Roberts, et al. · The American Journal of Human Genetics · 18
A synthetic-diploid benchmark for accurate variant-calling evaluation
2018 · Heng Li, Jonathan M. Bloom, et al. · Nature Methods · 230
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Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum
2018 · Andrea Ganna, F. Kyle Satterstrom, et al. · The American Journal of Human Genetics · 110
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Landscape of X chromosome inactivation across human tissues
2017 · Taru Tukiainen, Alexandra-Chloé Villani, et al. · Nature · 1,129
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Genetic effects on gene expression across human tissues
2017 · François Aguet, Ayellet V. Segrè, et al. · Nature · 4,026
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ClinVar data parsing
2017 · Xiaolei Zhang, Eric V. Minikel, et al. · Wellcome Open Research · 17
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Using high-resolution variant frequencies to empower clinical genome interpretation
2017 · Nicola Whiffin, Eric Minikel, et al. · Genetics in Medicine · 437
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Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome
2017 · Colleen M. Carlston, Anne H. O'Donnell-Luria, et al. · Human Mutation · 56
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
2017 · Jack A Kosmicki, Kaitlin E Samocha, et al. · Nature Genetics · 340
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