Publications
Piercing the dark matter: bioinformatics of long-range sequencing and mapping. Nat Rev Genet. 2018 ;19(6):329-346.
. The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. Mayo Clin Proc. 2018 ;93(11):1600-1610.
. Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst. 2018 ;6(3):271-281.e7.
. Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host. Nature. 2018 ;553(7686):77-81.
. Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma. Cell. 2017 ;169(7):1327-1341.e23.
Comprehensive Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2017 ;72(4):641-649.
. Genomic Alterations of Adamantinomatous and Papillary Craniopharyngioma. J Neuropathol Exp Neurol. 2017 ;76(2):126-134.
. Genomic analysis of hepatoblastoma identifies distinct molecular and prognostic subgroups. Hepatology. 2017 ;65(1):104-121.
. Genomic innovations, transcriptional plasticity and gene loss underlying the evolution and divergence of two highly polyphagous and invasive Helicoverpa pest species. BMC Biol. 2017 ;15(1):63.
. House spider genome uncovers evolutionary shifts in the diversity and expression of black widow venom proteins associated with extreme toxicity. BMC Genomics. 2017 ;18(1):178.
. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. Cell Rep. 2017 ;18(11):2780-2794.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Pan-urologic cancer genomic subtypes that transcend tissue of origin. Nat Commun. 2017 ;8(1):199.
. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 ;100(2):205-215.
. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.
. SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads. BMC Genomics. 2017 ;18(Suppl 6):691.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 ;135(6):591-601.
. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 ;98(6):1051-1066.
. Comparative genomic study of arachnid immune systems indicates loss of beta-1,3-glucanase-related proteins and the immune deficiency pathway. J Evol Biol. 2016 ;29(2):277-91.
. Comparative Genomics of a Parthenogenesis-Inducing Wolbachia Symbiont. G3 (Bethesda). 2016 ;6(7):2113-23.
. Comparative Genomics of Two Closely Related Wolbachia with Different Reproductive Effects on Hosts. Genome Biol Evol. 2016 ;8(5):1526-42.
. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Cancer Cell. 2016 ;29(5):723-736.
. Cross-species identification of genomic drivers of squamous cell carcinoma development across preneoplastic intermediates. Nat Commun. 2016 ;7:12601.
. DNAism: exploring genomic datasets on the web with Horizon Charts. BMC Bioinformatics. 2016 ;17:49.
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