Author
National Institutes of HealthORCID 0000-0001-5064-6211Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Wenhan Lu, Robert J. Carroll, Matthew Solomonson…·Konrad J. Karczewski
The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.
Kiran V. Garimella, Qiuhui Li, Julie Wertz…·Evan E. Eichler
The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.
David Pellerin, Giulia F. Del Gobbo, Madeline Couse…·Alba Sanchis‐Juan
The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.
Xiaowei Zhu, Bo Zhou, Reenal Pattni…·Gary W. Mathern
The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.