2018
Genomics and electronic health record systems
Ohno-Machado L, Kim J, Gabriel R, Kuo G, Hogarth M. Genomics and electronic health record systems. Human Molecular Genetics 2018, 27: r48-r55. PMID: 29741693, PMCID: PMC5946823, DOI: 10.1093/hmg/ddy104.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsElectronic health recordsHigh-level viewElectronic health record systemsHealth record systemsNext generation systemsEHR systemsSeamless fashionOpen issuesMyriad of approachesHealth recordsRecord systemSpecific solutionsEnd goalSources of informationAnalysis of genomesInformationCustomizationSystemGeneration systemVisionDegrees of successFunctionality
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