2013
Adjusting for Background Mutation Frequency Biases Improves the Identification of Cancer Driver Genes
Evans P, Avey S, Kong Y, Krauthammer M. Adjusting for Background Mutation Frequency Biases Improves the Identification of Cancer Driver Genes. IEEE Transactions On NanoBioscience 2013, 12: 150-157. PMID: 23694700, PMCID: PMC3989533, DOI: 10.1109/tnb.2013.2263391.Peer-Reviewed Original ResearchConceptsMore non-synonymous mutationsMutation frequencyTumor sequencing projectsGene-specific mannerCancer driver genesNon-synonymous mutationsSynonymous mutation ratioMutation biasSequencing projectsBackground mutation frequencyGene expressionDriver genesGenesTumor developmentMutation burdenMutation ratioHigher non-synonymous mutation burdenMutationsMutation countsExpressionBackground frequencyFrequency biasesIdentification
2012
Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing
del Viso F, Bhattacharya D, Kong Y, Gilchrist MJ, Khokha MK. Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing. BMC Genomics 2012, 13: 649. PMID: 23171430, PMCID: PMC3526394, DOI: 10.1186/1471-2164-13-649.Peer-Reviewed Original ResearchConceptsBulk segregant analysisForward genetic screenSegregant analysisGenetic screenGenome assemblyExon captureCausative mutationsVertebrate model systemHigh-throughput sequencingHuman genetic analysisThousands of SNPsAssembly of scaffoldsModel systemGenomic resourcesVertebrate modelXenopus tropicalisFine mappingGenetic analysisCapture sequencingSequence variantsSequencingMutationsRapid discoveryMutantsExome sequencing