[[TOC()]] = Protocol for Mendelian-error based QC = In this project, we will establish an infrastructure and perform QC of genotypic data generated by BGI using Mendelian errors check. == Summary == '''Status''': under development '''Contributors''': Yurii, Lennart, Elisa '''Timeline''': end Sep 2010 - end Dec 2010 '''Resources''': !PostDoc at 0.5 fte + BI/data manager/programmer at 0.25 fte (the same as the one on ChipBasedQcPipeline) + experienced supervisor at 0.1 fte (the same as the one on ChipBasedQcPipeline) '''Depends on''': availability of VCF data, ChipBasedQcPipeline (soft) '''Other projects depending on this''': ChipBasedQcPipeline (soft), DeNovoVariationPipeline, all projects which start with QC'ed data (e.g. all WP2 projects) == Aims and Deliverables == * Establish custom pipeline for Mendelian-check QC. * Check quality of sequence data. * Confirm factors (established in ChipBasedQcPipeline) affecting quality of sequencing. * Confirm and possibly fine-tune thresholds of quality metrics established in ChipBasedQcPipeline. * Confirm the false-positive and false-negative rates for variants discovered in our study (established in ChipBasedQcPipeline). * Explore the potential of improvement of calls by exploiting information from the sequencing of relatives (see TrioAwareVariantDiscoveryPipeline, TrioAwarePhasingPipeline). * Estimate the potential for ''de-novo'' variant discovery based on phasing information (see DeNovoVariationPipeline) * In accord with ChipBasedQcPipeline, provide QC'ed data == Idea == The basic idea of what questions should be addressed (without saying how) is summarized in MendelianQcPipelineIdea. == Workflow == Automated workflow (will be) provided in MendelianQcPipelineWorkflow page.