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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.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.Nature|October 12, 2018
The UK Biobank resource with deep phenotyping and genomic dataClare Bycroft, Colin Freeman, Desislava Petkova, et al.European Journal of Human Genetics : EJHG|January 27, 2011
The effect of genome-wide association scan quality control on imputation outcome for common variantsLorraine Southam, Kalliope Panoutsopoulou, N William Rayner, et al.Nature Genetics|September 25, 2024
Yield of genetic association signals from genomes, exomes and imputation in the UK BiobankSheila M Gaynor, Tyler Joseph, Xiaodong Bai, et al.Nature Communications|August 6, 2015
Multicohort analysis of the maternal age effect on recombinationHilary C Martin, Ryan Christ, Julie G Hussin, et al.Pageof 10