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Genome Medicine|November 17, 2022
Universal clinical Parkinson's disease axes identify a major influence of neuroinflammationCynthia Sandor, Stephanie Millin, Andrew Dahl, et al.European Journal of Human Genetics : EJHG|June 5, 2014
Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'Patrick Deelen, Androniki Menelaou, Elisabeth M van Leeuwen, et al.Nature Genetics|May 21, 2021
Computationally efficient whole-genome regression for quantitative and binary traitsJoelle Mbatchou, Leland Barnard, Joshua Backman, et al.Scientific Data|April 18, 2020
Retraction Note: 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE projectNa Cai, Tim B Bigdeli, Warren W Kretzschmar, 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.Scientific Data|February 15, 2017
11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE projectNa Cai, Tim B Bigdeli, Warren W Kretzschmar, et al.Nature Communications|September 15, 2015
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelJie Huang, Bryan Howie, Shane McCarthy, 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.Cell Reports|December 16, 2014
Genomic and functional overlap between somatic and germline chromosomal rearrangementsSebastiaan van Heesch, Marieke Simonis, Markus J van Roosmalen, et al.American Journal of Human Genetics|October 4, 2024
Joint testing of rare variant burden scores using non-negative least squaresAndrey Ziyatdinov, Joelle Mbatchou, Anthony Marcketta, et al.Pageof 11