Nicholas H. Smith

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale

Xihao Li, Zilin Li, Hufeng Zhou et al. · Nature Genetics · 2020 · 290 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

Yang Luo, Masahiro Kanai, Wanson Choi et al. · Nature Genetics · 2021 · 187 citations · Full text

Life Sciences, Genetics, Immunology +17

Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery

Friederike Hanssen, M. Garcia, Lasse Folkersen et al. · NAR Genomics and Bioinformatics · 2024 · 75 citations · Full text

Life Sciences, Bioinformatics, High-performance Computing +17

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

Margaret Sunitha Selvaraj, Xihao Li, Zilin Li et al. · Nature Communications · 2022 · 74 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17