Publications
Portals for Exploring Noncoding Variants in Pediatric Cancer. Trends Genet. 2021 ;37(4):297-298.
. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
. SVExpress: identifying gene features altered recurrently in expression with nearby structural variant breakpoints. BMC Bioinformatics. 2021 ;22(1):135.
. Towards population-scale long-read sequencing. Nat Rev Genet. 2021 ;22(9):572-587.
. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 ;10(9).
. . Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 ;49(1):23-24k.
. Evaluation of mitochondrial DNA copy number estimation techniques. PLoS One. 2020 ;15(1):e0228166.
. High-depth African genomes inform human migration and health. Nature. 2020 ;586(7831):741-748.
. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
. An Introduction to the Callithrix Genus and Overview of Recent Advances in Marmoset Research. ILAR J. 2020 ;61(2-3):110-138.
. Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes. Nat Biotechnol. 2020 ;38(9):1044-1053.
. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 ;9(12).
. PhaseME: Automatic rapid assessment of phasing quality and phasing improvement. Gigascience. 2020 ;9(7).
. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. Am J Hum Genet. 2020 ;107(5):932-941.
. ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc. 2019 ;26(11):1370-1374.
. Arthropod Genome Sequencing and Assembly Strategies. Methods Mol Biol. 2019 ;1858:1-14.
. The comparative genomics and complex population history of baboons. Sci Adv. 2019 ;5(1):eaau6947.
. Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants. Genome Med. 2019 ;11(1):80.
. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 ;27(4):563-573.
. A Genocentric Approach to Discovery of Mendelian Disorders. Am J Hum Genet. 2019 ;105(5):974-986.
. Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. Cell Rep. 2019 ;29(6):1675-1689.e9.
. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. Am J Hum Genet. 2019 ;105(1):132-150.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
.