Article
BICEP: Bayesian inference for rare genomic variant causality evaluation in pedigrees.
Briefings in bioinformatics - 22 Nov 2024
Ormond Cathal, Ryan Niamh M, Cap Mathieu, Byerley William, Corvin Aiden, Heron Elizabeth A
Abstract excerpt
Next-generation sequencing is widely applied to the investigation of pedigree data for gene discovery. However, identifying plausible disease-causing variants within a robust statistical framework is challenging. Here, we introduce BICEP: a Bayesian inference tool for rare variant causality evaluation in pedigree-based cohorts. BICEP calculates the posterior odds that a genomic variant is causal for a phenotype...
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