2014
Computational Analysis in Cancer Exome Sequencing
Evans P, Kong Y, Krauthammer M. Computational Analysis in Cancer Exome Sequencing. Methods In Molecular Biology 2014, 1176: 219-227. PMID: 25030931, DOI: 10.1007/978-1-4939-0992-6_18.Peer-Reviewed Original ResearchConceptsSomatic single nucleotide variantsMutational eventsSingle nucleotide variantsHuman genesSequencing readsShort insertionsDriver genesNucleotide variantsNumber alterationsExome sequencingGenesCancer samplesComputational analysisMore mutational eventsPowerful toolComputational methodsExomeSequencingDeletionReads
2013
Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F, Consortium 1, Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics. Science 2013, 342: 1235587. PMID: 24092746, PMCID: PMC3947637, DOI: 10.1126/science.1235587.Peer-Reviewed Original Research
2010
MU2A—reconciling the genome and transcriptome to determine the effects of base substitutions
Garla V, Kong Y, Szpakowski S, Krauthammer M. MU2A—reconciling the genome and transcriptome to determine the effects of base substitutions. Bioinformatics 2010, 27: 416-418. PMID: 21149339, PMCID: PMC3031033, DOI: 10.1093/bioinformatics/btq658.Peer-Reviewed Original ResearchConceptsProtein productsSequence variantsNext-generation sequencing technologiesGenomic sequence variantsTranscript librariesGenomic coordinatesGenomic positionsReference genomeSequencing technologiesSequence variationGenomeGenomic variantsBase substitutionsVariant annotationTranscriptomeTranscriptsVariantsAnnotationMapping