2015
Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments
Qi Y, Liu X, Liu CG, Wang B, Hess KR, Symmans WF, Shi W, Pusztai L. Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments. PLOS ONE 2015, 10: e0119230. PMID: 26136146, PMCID: PMC4489803, DOI: 10.1371/journal.pone.0119230.Peer-Reviewed Original ResearchConceptsSingle nucleotide variantsEuropean Genome-phenome ArchiveProtein kinase geneMillions of nucleotidesSame genomic DNANext-generation sequencing experimentsVariant callsGenomic locationNext-generation sequencingSequence dataSNV callsKinase geneGenomic DNANucleotide substitutionsSequencing experimentsHigh stringencyVariant allele frequencyNucleotide variantsTrue biological changeNucleotide alterationsGeneration sequencingAllele countsSequencing errorsBreast cancer samplesAllele frequencies
2013
Genomic alterations in matching primary tumors and metastasis in breast cancer.
Jiang T, Szekely B, Szasz A, Kluger Y, Kulka J, Pusztai L. Genomic alterations in matching primary tumors and metastasis in breast cancer. Journal Of Clinical Oncology 2013, 31: 1549-1549. DOI: 10.1200/jco.2013.31.15_suppl.1549.Peer-Reviewed Original ResearchPrimary tumorPrimary cancerBreast cancerMetastatic lesionsDisease historyExtensive prior therapyPrimary breast cancerLonger disease historyWhole-exome sequencingDifferent tumor sitesFunctional impactPrior therapyNucleotide variantsMetastasisPatientsTumor siteTumorsCancerNormal tissuesCancer samplesExome sequencingGenomic alterationsLesionsMore mutationsExon Kit