Are you analysing next generation sequencing data in pedigrees?
If your answer is yes, then this workshop is for you!!
This workshop will introduce the new software tool BICEP: Bayesian Inference for rare genomic variant Causality Evaluation in Pedigrees. BICEP calculates the posterior odds that a genomic variant is causal for a phenotype based on the variant co-segregation patterns within the pedigree as well as a priori evidence such as deleteriousness and functional consequence. BICEP can be used to identify causal variants for phenotypes with both Mendelian and complex genetic architectures. Additionally, BICEP can correctly down-weight common variants that are unlikely to be involved in phenotypic liability in the context of a pedigree, even if they have reasonable co-segregation patterns. Due to the underlying probability-based approach, output metrics from BICEP allow for the quantitative comparison of variant causality within and across pedigrees.Further details of BICEP
ManuscriptGitHub
Date, time, and place
- Friday 16th May 2025
- 14:00 to 17:00 Irish Standard Time (IST)
- Fully online (Zoom)
Workshop Prerequisites
It is expected that workshop attendees will have some previous experience in handling next generation sequencing data and annotation databases. Basic statistical experience will be required however, experience with the Bayesian approach is not and details of this will be provided during the workshop.We will cover
- What is BICEP and when to use
- BICEP worked example
- How to prepare your data
- Interpreting the BICEP output
Fees
This online workshop is FREEOrganised by
Eleisa HeronCathal Ormond
Mathieu Cap
If further details are required contact Dr Eleisa Heron: eaheron AT tcd DOT ie
