2021
Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants
Song S, Shan N, Wang G, Yan X, Liu JS, Hou L. Openness weighted association studies: leveraging personal genome information to prioritize non-coding variants. Bioinformatics 2021, 37: 4737-4743. PMID: 34260700, PMCID: PMC8665759, DOI: 10.1093/bioinformatics/btab514.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesFunctional annotationGWAS signalsAssociation studiesComplex diseasesSpecific functional annotationsTissue-specific patternsNon-coding variationsPotential functional differencesDisease-relevant pathwaysPersonal genome informationGenome informationGenomic regionsComprehensive annotationHuman genomeChromosome accessibilityGenomic segmentsMore heritabilityNoncoding variantsPersonal genomesRelevant pathwaysNovel insightsFunctional differencesGenomeDisease mechanisms
2017
Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis
Vukmirovic M, Herazo-Maya JD, Blackmon J, Skodric-Trifunovic V, Jovanovic D, Pavlovic S, Stojsic J, Zeljkovic V, Yan X, Homer R, Stefanovic B, Kaminski N. Identification and validation of differentially expressed transcripts by RNA-sequencing of formalin-fixed, paraffin-embedded (FFPE) lung tissue from patients with Idiopathic Pulmonary Fibrosis. BMC Pulmonary Medicine 2017, 17: 15. PMID: 28081703, PMCID: PMC5228096, DOI: 10.1186/s12890-016-0356-4.Peer-Reviewed Original ResearchConceptsPaired-end sequencingTranscript profilingHuman genomeRNA sequencingTranscriptomic profilingFFPE lung tissuesSequencing readsLung tissueTotal RNABackgroundIdiopathic pulmonary fibrosisLethal lung diseaseSequencingReadsProfilingPulmonary fibrosisLung diseaseUnknown etiologyIPF tissueGenomeHiSeqTissueTopHat2GenesIPFRNA