2024
Statistical methods for assessing the effects of de novo variants on birth defects
Xie Y, Wu R, Li H, Dong W, Zhou G, Zhao H. Statistical methods for assessing the effects of de novo variants on birth defects. Human Genomics 2024, 18: 25. PMID: 38486307, PMCID: PMC10938830, DOI: 10.1186/s40246-024-00590-z.Peer-Reviewed Original ResearchConceptsDe novo variantsAnalyzed de novo variantsDevelopment of next-generation sequencing technologiesNext-generation sequencing technologiesSequencing technologiesImprove statistical powerGenetic heterogeneitySequenced samplesStatistical powerBirth defectsDiseased individualsLow occurrenceCongenital heart diseaseVariantsGenesDeleterious effectsSequenceGeneral workflowStatistical methods
2014
Statistical Methods for the Analysis of Next Generation Sequencing Data from Paired Tumor-Normal Samples
Chen M, Hou L, Zhao H. Statistical Methods for the Analysis of Next Generation Sequencing Data from Paired Tumor-Normal Samples. Frontiers In Probability And The Statistical Sciences 2014, 379-404. DOI: 10.1007/978-3-319-07212-8_19.Peer-Reviewed Original ResearchStatistical methodsSingle nucleotide alterationsSequencing dataNext-generation sequencing technologiesGeneration sequencing technologyNext-generation sequencing dataGeneration sequencing dataGenomic eraNormal sequencing dataTumor-normal samplesCancer genomesSequencing technologiesSomatic variationNucleotide alterationsNumber alterationsUnprecedented resolutionDNA levelsGenomeAlterations