Publications
Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 ;7(6):642-8.
. Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. Am J Hum Genet. 2019 ;105(5):1057-1068.
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Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study. Genetics. 2018 ;209(2):607-616.
. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med. 2006 ;354(12):1264-72.
. Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking. Atherosclerosis. 2007 ;190(1):26-34.
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Sequence variation in DOCK9 and heterogeneity in bipolar disorder. Psychiatr Genet. 2007 ;17(5):274-86.
. Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility. Science. 2020 ;370(6523).
. Sequence, assembly and analysis of pX01 and pX02. J Appl Microbiol. 1999 ;87(2):261-2.
. Sequence and structure of the extrachromosomal palindrome encoding the ribosomal RNA genes in Dictyostelium. Nucleic Acids Res. 2003 ;31(9):2361-8.
. Sequence and organization of pXO1, the large Bacillus anthracis plasmid harboring the anthrax toxin genes. J Bacteriol. 1999 ;181(20):6509-15.
. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Nature. 2004 ;432(7018):695-716.
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Sequence analysis in reveals pervasiveness of X-Y arms races in mammalian lineages. Genome Res. 2020 ;30(12):1716-1726.
. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017 ;18(1):147.
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Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015 ;7(1):54.
. A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 ;449(7164):851-61.
. Searching thousands of genomes to classify somatic and novel structural variants using STIX. Nat Methods. 2022 ;19(4):445-448.
. Seafood consumption and blood mercury concentrations in Jamaican children with and without autism spectrum disorders. Neurotox Res. 2013 ;23(1):22-38.
. Scale-invariant structure of strongly conserved sequence in genomic intersections and alignments. Proc Natl Acad Sci U S A. 2006 ;103(35):13121-5.
. Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines. Cell Syst. 2018 ;6(3):271-281.e7.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 ;20(10):1483-1492.
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