Publications
Filters: Keyword is Genome, Human [Clear All Filters]
The 1000 Genomes Project: data management and community access. Nat Methods. 2012 ;9(5):459-62.
. 28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res. 2007 ;17(12):1797-808.
. ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies. Am J Hum Genet. 2019 ;104(3):410-421.
. Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome. Nat Biotechnol. 2019 ;37(10):1155-1162.
. Accurate detection of complex structural variations using single-molecule sequencing. Nat Methods. 2018 ;15(6):461-468.
. Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms. BMC Bioinformatics. 2014 ;15 Suppl 17(Suppl 17):I1.
. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science. 2018 ;361(6409).
. Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. Nat Commun. 2018 ;9(1):828.
. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3. Hum Mol Genet. 2015 ;24(14):4061-77.
. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 ;17(6):760-74.
. Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2020 ;578(7793):102-111.
. Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease. Nat Genet. 2015 ;47(6):640-2.
. Analysis of the quality and utility of random shotgun sequencing at low redundancies. Genome Res. 1998 ;8(10):1074-84.
. ARBoR: an identity and security solution for clinical reporting. J Am Med Inform Assoc. 2019 ;26(11):1370-1374.
. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing. Genome Biol. 2022 ;23(1):2.
. Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 ;16(1):286.
. Association studies for next-generation sequencing. Genome Res. 2011 ;21(7):1099-108.
. Atlas2 Cloud: a framework for personal genome analysis in the cloud. BMC Genomics. 2012 ;13 Suppl 6(Suppl 6):S19.
. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel. Genet Med. 2019 ;21(9):2135-2144.
. Base-Biased Evolution of Disease-Associated Mutations in the Human Genome. Hum Mutat. 2016 ;37(11):1209-1214.
. Biological and clinical significance of somatic mutations in Langerhans cell histiocytosis and related histiocytic neoplastic disorders. Hematology Am Soc Hematol Educ Program. 2015 ;2015:559-64.
. Building a comprehensive genomic program for hepatocellular carcinoma. World J Surg. 2011 ;35(8):1746-50.
. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A. 2012 ;158A(7):1523-5.
. Characterization and visualization of tandem repeats at genome scale. Nat Biotechnol. 2024 ;42(10):1606-1614.
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