BioinformaticsJournal of Computational BiologyPeer-reviewed
Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data
John G Cleary, Ross Braithwaite, Kurt Gaastra…·Francisco M De La Vega
This paper introduces a Bayesian network framework for joint variant and de novo mutation identification in pedigrees, showing improved accuracy over singleton and population-based methods.
DOI 10.1089/cmb.2014.0029