2023
Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program
Wang X, Ryu J, Kim J, Ramirez A, Mayo K, Condon H, Vaitinadin N, Ohno-Machado L, Talavera G, Ellinor P, Lubitz S, Choi S. Common and rare variants associated with cardiometabolic traits across 98,622 whole-genome sequences in the All of Us research program. Journal Of Human Genetics 2023, 68: 565-570. PMID: 37072623, PMCID: PMC10524735, DOI: 10.1038/s10038-023-01147-z.Peer-Reviewed Original ResearchConceptsDiverse human populationsGenomic dataGene-based burden testsWhole genome sequencesRare variant analysisHuman populationQuantitative traitsBurden testsRare lossLociComplex diseasesGenetic associationVariant analysisFunction variantsCardiometabolic traitsRare variantsTraitsBiomedical researchGIGYF1VariantsNPR2ACANSequencePopulationLDLR
2010
PositionMatcher: A Fast Custom-Annotation Tool for Short DNA Sequences.
Pitzer E, Kim J, Patel K, Galante P, Ohno-Machado L. PositionMatcher: A Fast Custom-Annotation Tool for Short DNA Sequences. AMIA Joint Summits On Translational Science Proceedings 2010, 2010: 25-9. PMID: 21347141, PMCID: PMC3041550.Peer-Reviewed Original ResearchParallel sequencing technologiesShort DNA sequencesTranscriptome studiesGenomic positionsDNA sequencesSequencing technologiesGenomic tagsExpression technologySequencing readsRapid AnnotationGene levelMicroarray probesShort readsCustom annotationsAbundance valuesAnnotationNovel alignment algorithmReadsBiological referenceTagsIlluminaAffymetrixSequenceMore insightProbe