Fengyuan Hu

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Quanli Wang, Ryan S. Dhindsa, Keren Carss et al. · Nature · 2021 · 604 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 484 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data

Richard Smith, J. Aleksić, Daniela Butano et al. · Bioinformatics · 2012 · 251 citations · Full text

Medicine, Bioinformatics, Biomedical Informatics +15

Germline selection shapes human mitochondrial DNA diversity

Wei Wei, Salih Tuna, Michael J. Keogh et al. · Science · 2019 · 251 citations · Full text

Medicine, Genetics, Molecular Genetics +15