2018
Systematic pan-cancer analysis of somatic allele frequency
Spurr L, Li M, Alomran N, Zhang Q, Restrepo P, Movassagh M, Trenkov C, Tunnessen N, Apanasovich T, Crandall K, Edwards N, Horvath A. Systematic pan-cancer analysis of somatic allele frequency. Scientific Reports 2018, 8: 7735. PMID: 29769535, PMCID: PMC5956099, DOI: 10.1038/s41598-018-25462-0.Peer-Reviewed Original ResearchConceptsTotal gene expressionCancer-implicated genesSomatic allelesGene expressionHigh allele frequencyNonsense-mediated mRNA decayAllele frequenciesSomatic variantsKey cancer genesDNA sequencing dataSingle nucleotide variantsPan-cancer analysisTumor somatic variantsMRNA decayCancer Genome AtlasSequencing dataCGC genesNormal RNACancer genesNucleotide variantsGenesTumor transcriptomeGenetic variantsGenome AtlasImbalanced expression
2014
SNPlice: variants that modulate Intron retention from RNA-sequencing data
Mudvari P, Movassagh M, Kowsari K, Seyfi A, Kokkinaki M, Edwards N, Golestaneh N, Horvath A. SNPlice: variants that modulate Intron retention from RNA-sequencing data. Bioinformatics 2014, 31: 1191-1198. PMID: 25481010, PMCID: PMC4393518, DOI: 10.1093/bioinformatics/btu804.Peer-Reviewed Original ResearchConceptsRNA-seq datasetsExon-intron boundariesImportance of splicingRNA-sequencing dataHigh-throughput approachIntron retentionSplicing eventsAltered splicingSplice junctionsVariant lociVariant nucleotidesAllele-specific sequencingSplicingSupplementary dataLinux computerBinary packagesComputational approachEdUVariantsLociRNANucleotidesBioinformaticsSequencing