Publications
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet 49, 1421-1427 (2017).
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun 9, 1612 (2018).
Methods for the Analysis and Interpretation for Rare Variants Associated with Complex Traits. Curr Protoc Hum Genet 101, e83 (2019).
Modeling epistasis in mice and yeast using the proportion of two or more distinct genetic backgrounds: Evidence for "polygenic epistasis". PLoS Genet 16, e1009165 (2020).
Multiple phenotype association tests using summary statistics in genome-wide association studies. Biometrics 74, 165-175 (2018).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
Negative selection in humans and fruit flies involves synergistic epistasis. Science 356, 539-542 (2017).
Opportunities and challenges for transcriptome-wide association studies. Nat Genet 51, 592-599 (2019).
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat Med 26, 98-109 (2020).
A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population. PLoS Genet 16, e1008802 (2020).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Population sequencing data reveal a compendium of mutational processes in the human germ line. Science 373, 1030-1035 (2021).
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. Nat Commun 10, 790 (2019).
Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk. J Invest Dermatol 138, 1507-1510 (2018).
Race, socioeconomic deprivation, and hospitalization for COVID-19 in English participants of a national biobank. Int J Equity Health 19, 114 (2020).
RAFFI: Accurate and fast familial relationship inference in large scale biobank studies using RaPID. PLoS Genet 17, e1009315 (2021).
Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16, e1008682 (2020).
Regulatory genomic circuitry of human disease loci by integrative epigenomics. Nature 590, 300-307 (2021).
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits. Am J Hum Genet 106, 71-91 (2020).
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet 108, 965-982 (2021).
A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods 15, 595-597 (2018).
Testing for gene-environment interaction under exposure misspecification. Biometrics 74, 653-662 (2018).
Testing for the indirect effect under the null for genome-wide mediation analyses. Genet Epidemiol 41, 824-833 (2017).
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. Cancer Res 80, 4346-4354 (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Nat Genet 52, 1239-1246 (2020).
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. Bioinformatics 33, 1389-1391 (2017).
Weighted pseudolikelihood for SNP set analysis with multiple secondary outcomes in case-control genetic association studies. Biometrics 73, 1210-1220 (2017).