Samantha L. Rosenthal

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

De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

Michael D. Kessler, Douglas P. Loesch, James A. Perry et al. · Proceedings of the National Academy of Sciences · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies

Zilin Li, Xihao Li, Hufeng Zhou et al. · Nature Methods · 2022 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

More evidence for association of a rare TREM2 mutation (R47H) with Alzheimer's disease risk

Samantha L. Rosenthal, Mikhil Bamne, Xingbin Wang et al. · Neurobiology of Aging · 2015 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16

Connecting the Dots: Potential of Data Integration to Identify Regulatory SNPs in Late-Onset Alzheimer's Disease GWAS Findings

Samantha L. Rosenthal, M. Michael Barmada, Xingbin Wang et al. · PLoS ONE · 2014 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17