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
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