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Chapters
- 00:05Title
- 01:28Pooled PCR Library Preparation and Sequencing
- 04:46Sequencing Reads Alignment and Analysis
- 07:35Rare Variant Detection using SPLINTER
- 11:11SPLINTER Results: Detection of Rare Genomic Variants from Pooled Sequencing
- 13:24Conclusion
Pooled DNA-sekventering, er en hurtig og omkostningseffektiv strategi for at opdage sjældne varianter, der er forbundet med komplekse fænotyper i store årgange. Her beskriver vi den beregningsmæssige analyser af poolede, næste generation sekventering af 32 kræft-relaterede gener ved hjælp af Splinter softwarepakke. Denne metode er skalerbar, og anvendes på enhver fænotype af interesse.
Tags
Rare Genomic VariantsPooled SequencingSPLINTERDNA Sequencing TechnologyGenetic VariationArray-based GenotypingCommon Disease/rare Variant HypothesisMissing HeritabilityPersonal Profile Of Rare Or Private DNA VariantsComplex PhenotypesAffected IndividualsUnaffected CohortComputational AnalysisPooled Sequencing ApproachSoftware Package
