Publications
Filters: Keyword is Genome, Human [Clear All Filters]
Pash: efficient genome-scale sequence anchoring by Positional Hashing. Genome Res. 2004 ;14(4):672-8.
. Deeper into the genome. Nature. 2005 ;437(7063):1233-4.
. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol Scand. 2005 ;111(6):351-2.
. A haplotype map of the human genome. Nature. 2005 ;437(7063):1299-320.
Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 ;15(2):269-75.
. Pooled genomic indexing of rhesus macaque. Genome Res. 2005 ;15(2):292-301.
. Community annotation: procedures, protocols, and supporting tools. Genome Res. 2006 ;16(11):1329-33.
. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 ;38(2):214-7.
. High-throughput gene expression profiling--a work-in-progress with great potential for proteomics. Curr Opin Drug Discov Devel. 2006 ;9(3):332-8.
. 28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res. 2007 ;17(12):1797-808.
. Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 ;17(6):760-74.
. Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 ;450(7171):893-8.
. Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007 ;4(11):903-5.
. ENCODE: more genomic empowerment. Genome Res. 2007 ;17(6):667-8.
. An entropy-based genome-wide transmission/disequilibrium test. Hum Genet. 2007 ;121(3-4):357-67.
. A genomewide admixture map for Latino populations. Am J Hum Genet. 2007 ;80(6):1024-36.
. Genome-wide detection and characterization of positive selection in human populations. Nature. 2007 ;449(7164):913-8.
. A genome-wide linkage scan for diabetic retinopathy susceptibility genes in Mexican Americans with type 2 diabetes from Starr County, Texas. Diabetes. 2007 ;56(4):1167-73.
. Human-specific changes of genome structure detected by genomic triangulation. Science. 2007 ;316(5822):235-7.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. The complete genome of an individual by massively parallel DNA sequencing. Nature. 2008 ;452(7189):872-6.
. Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008 ;455(7216):1061-8.
Pash 2.0: scaleable sequence anchoring for next-generation sequencing technologies. Pac Symp Biocomput. 2008 ;:102-13.
. Research ethics and the challenge of whole-genome sequencing. Nat Rev Genet. 2008 ;9(2):152-6.
. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet. 2009 ;41(10):1061-7.
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