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Jack A Kosmicki

Showing results (1-10 of 42) with videos related to

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Human Genetics|May 26, 2016
Discovery of rare variants for complex phenotypesJack A Kosmicki, Claire L Churchhouse, Manuel A Rivas, et al.
Molecular Biology and Evolution|April 21, 2019
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in HumansDonate Weghorn, Daniel J Balick, Christopher Cassa, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Autism spectrum disorder severity reflects the average contribution of de novo and familial influencesElise B Robinson, Kaitlin E Samocha, Jack A Kosmicki, et al.
Nature Genetics|December 19, 2018
Author Correction: Predicting the clinical impact of human mutation with deep neural networksLaksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, et al.
Nature Genetics|July 25, 2018
Predicting the clinical impact of human mutation with deep neural networksLaksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, et al.
Nature Genetics|November 12, 2025
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studiesTyler A Joseph, Joelle Mbatchou, Arkopravo Ghosh, et al.
Nature Genetics|May 21, 2021
Computationally efficient whole-genome regression for quantitative and binary traitsJoelle Mbatchou, Leland Barnard, Joshua Backman, et al.
Genetic Epidemiology|November 3, 2025
Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target DiscoveryChristopher E Gillies, Joelle Mbatchou, Lukas Habegger, et al.
Nature Communications|May 21, 2020
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilitiesCaitlin A Nichols, William J Gibson, Meredith S Brown, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Pageof 5

Showing results (1-10 of 42) with videos related to

Sort By:
Pageof 5
Human Genetics|May 26, 2016
Discovery of rare variants for complex phenotypesJack A Kosmicki, Claire L Churchhouse, Manuel A Rivas, et al.
Molecular Biology and Evolution|April 21, 2019
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in HumansDonate Weghorn, Daniel J Balick, Christopher Cassa, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 8, 2014
Autism spectrum disorder severity reflects the average contribution of de novo and familial influencesElise B Robinson, Kaitlin E Samocha, Jack A Kosmicki, et al.
Nature Genetics|December 19, 2018
Author Correction: Predicting the clinical impact of human mutation with deep neural networksLaksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, et al.
Nature Genetics|July 25, 2018
Predicting the clinical impact of human mutation with deep neural networksLaksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, et al.
Nature Genetics|November 12, 2025
Computationally efficient meta-analysis of gene-based tests using summary statistics in large-scale genetic studiesTyler A Joseph, Joelle Mbatchou, Arkopravo Ghosh, et al.
Nature Genetics|May 21, 2021
Computationally efficient whole-genome regression for quantitative and binary traitsJoelle Mbatchou, Leland Barnard, Joshua Backman, et al.
Genetic Epidemiology|November 3, 2025
Variant Classification Using Proteomics-Informed Large Language Models Increases Power of Rare Variant Association Studies and Enhances Target DiscoveryChristopher E Gillies, Joelle Mbatchou, Lukas Habegger, et al.
Nature Communications|May 21, 2020
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilitiesCaitlin A Nichols, William J Gibson, Meredith S Brown, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Pageof 5