Publications
Graphical analysis for phenome-wide causal discovery in genotyped population-scale biobanks. Nat Commun 12, 350 (2021).
Improving the trans-ancestry portability of polygenic risk scores by prioritizing variants in predicted cell-type-specific regulatory elements. Nat Genet 52, 1346-1354 (2020).
Covariate selection for association screening in multiphenotype genetic studies. Nat Genet 49, 1789-1795 (2017).
A positively selected FBN1 missense variant reduces height in Peruvian individuals. Nature 582, 234-239 (2020).
Testing for the indirect effect under the null for genome-wide mediation analyses. Genet Epidemiol 41, 824-833 (2017).
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science 359, 1233-1239 (2018).
Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system. Elife 6, (2017).
Genetic diversity in populations across Latin America: implications for population and medical genetic studies. Curr Opin Genet Dev 53, 98-104 (2018).
Regulatory genomic circuitry of human disease loci by integrative epigenomics. Nature 590, 300-307 (2021).
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nat Genet 53, 313-321 (2021).
Comprehensive cell type decomposition of circulating cell-free DNA with CelFiE. Nat Commun 12, 2717 (2021).
Estimating the selective effects of heterozygous protein-truncating variants from human exome data. Nat Genet 49, 806-810 (2017).
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet 104, 260-274 (2019).
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits. Am J Hum Genet 106, 71-91 (2020).
Adjusting for Principal Components of Molecular Phenotypes Induces Replicating False Positives. Genetics 211, 1179-1189 (2019).
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell 184, 2633-2648.e19 (2021).
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases. Am J Hum Genet 106, 611-622 (2020).
Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study. Nat Commun 9, 1612 (2018).
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. Am J Hum Genet 108, 965-982 (2021).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Leveraging blood and tissue CD4+ T cell heterogeneity at the single cell level to identify mechanisms of disease in rheumatoid arthritis. Curr Opin Immunol 49, 27-36 (2017).
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nat Med 25, 911-919 (2019).
Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations. Nat Genet 50, 1600-1607 (2018).
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection. Nat Genet 49, 1421-1427 (2017).
Epidemiology of Functional Seizures Among Adults Treated at a University Hospital. JAMA Netw Open 3, e2027920 (2020).
A genetic stochastic process model for genome-wide joint analysis of biomarker dynamics and disease susceptibility with longitudinal data. Genet Epidemiol 41, 620-635 (2017).
A common loss-of-function variant is associated with lower vitamin B concentration in African Americans. Blood 131, 2859-2863 (2018).
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).
On the cross-population generalizability of gene expression prediction models. PLoS Genet 16, e1008927 (2020).
Improved methods for multi-trait fine mapping of pleiotropic risk loci. Bioinformatics 33, 248-255 (2017).
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet 52, 1145-1150 (2020).
VEXOR: an integrative environment for prioritization of functional variants in fine-mapping analysis. Bioinformatics 33, 1389-1391 (2017).
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet 52, 969-983 (2020).
A synthetic-diploid benchmark for accurate variant-calling evaluation. Nat Methods 15, 595-597 (2018).
Identifying causal variants and genes using functional genomics in specialized cell types and contexts. Hum Genet 139, 95-102 (2020).
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. Cancer Res 80, 4346-4354 (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).
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. Am J Hum Genet 100, 635-649 (2017).
Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. Am J Epidemiol 186, 753-761 (2017).
RAFFI: Accurate and fast familial relationship inference in large scale biobank studies using RaPID. PLoS Genet 17, e1009315 (2021).