Publications
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
. Improved sequence mapping using a complete reference genome and lift-over. Nat Methods. 2024 ;21(1):41-49.
. Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nat Biotechnol. 2024 ;42(1):139-147.
. . The complete sequence of a human Y chromosome. Nature. 2023 ;621(7978):344-354.
. Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation. Mol Biol Evol. 2023 ;40(12).
. An efficient genotyper and star-allele caller for pharmacogenomics. Genome Res. 2023 ;33(1):61-70.
. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Cell. 2023 ;186(7):1493-1511.e40.
. Epigenome-wide association study using peripheral blood leukocytes identifies genomic regions associated with periodontal disease and edentulism in the Atherosclerosis Risk in Communities study. J Clin Periodontol. 2023 ;50(9):1140-1153.
. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
. FixItFelix: improving genomic analysis by fixing reference errors. Genome Biol. 2023 ;24(1):31.
. Genomic analysis of two phlebotomine sand fly vectors of Leishmania from the New and Old World. PLoS Negl Trop Dis. 2023 ;17(4):e0010862.
. The genomic landscape of familial glioma. Sci Adv. 2023 ;9(17):eade2675.
. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 ;24(1):221.
. Genomics in Clinical Practice. N Engl J Med. 2023 ;388(17):1619-1620.
. Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nat Methods. 2023 ;20(8):1213-1221.
. Phylogenomic analyses provide insights into primate evolution. Science. 2023 ;380(6648):913-924.
. A single cell genomics atlas of the Drosophila larval eye reveals distinct photoreceptor developmental timelines. Nat Commun. 2023 ;14(1):7205.
. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis. Circ Genom Precis Med. 2023 ;16(6):e004176.
. Using cancer proteomics data to identify gene candidates for therapeutic targeting. Oncotarget. 2023 ;14:399-412.
. Variant calling and benchmarking in an era of complete human genome sequences. Nat Rev Genet. 2023 ;24(7):464-483.
. Whole Genome Analysis of SNV and Indel Polymorphism in Common Marmosets (). Genes (Basel). 2023 ;14(12).
. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. Comparative molecular genomic analyses of a spontaneous rhesus macaque model of mismatch repair-deficient colorectal cancer. PLoS Genet. 2022 ;18(4):e1010163.
. A complete reference genome improves analysis of human genetic variation. Science. 2022 ;376(6588):eabl3533.
.