2017
Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility
Kim J, Shimizu C, Kingsmore S, Veeraraghavan N, Levy E, dos Santos A, Yang H, Flatley J, Hoang L, Hibberd M, Tremoulet A, Harismendy O, Ohno-Machado L, Burns J. Whole genome sequencing of an African American family highlights toll like receptor 6 variants in Kawasaki disease susceptibility. PLOS ONE 2017, 12: e0170977. PMID: 28151979, PMCID: PMC5289527, DOI: 10.1371/journal.pone.0170977.Peer-Reviewed Original ResearchConceptsWhole genome sequencesGenome-wide association studiesToll-like receptor 6Single nucleotide variantsCommon disease-rare variant hypothesisExpression quantitative trait loci (eQTL) analysisDifferential expressionQuantitative trait locus (QTL) analysisCommon disease–common variantPathogen-associated molecular pattern recognitionIntegrative genomics approachIntronic single nucleotide variantsComplex genetic diseasesSequence quality scoresMolecular pattern recognitionWhole-genome sequencingGenomic approachesTranscriptome dataGenome sequenceSequence variationLocus analysisGenome sequencingAssociation studiesFunction of genotypeNucleotide variants
2015
Splicing Express: a software suite for alternative splicing analysis using next-generation sequencing data
Kroll J, Kim J, Ohno-Machado L, de Souza S. Splicing Express: a software suite for alternative splicing analysis using next-generation sequencing data. PeerJ 2015, 3: e1419. PMID: 26618088, PMCID: PMC4655094, DOI: 10.7717/peerj.1419.Peer-Reviewed Original ResearchAlternative splicing eventsSequencing dataAlternative splicing analysisNext-generation DNA sequencing technologiesTranscriptome sequencing dataUCSC Genome BrowserDNA sequencing technologiesRNA-seq dataNext-generation sequencing dataDNA sequencing platformsSoftware suiteHuman Body MapEukaryotic speciesSplicing eventsTranscriptome dataGene coordinatesSplicing analysisGenome browserUNIX-like systemsNext-generation DNA sequencing platformsSequencing technologiesBioinformatics skillsAvailable speciesExpression profilesBioinformatics background