Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data
John G Cleary, Ross Braithwaite, Kurt Gaastra, Brian S Hilbush, Stuart Inglis, Sean A Irvine, Alan Jackson, Richard Littin, Sahar Nohzadeh-Malakshah, Minita Shah, Mehul Rathod, David Ware, Len Trigg, 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.
Journal of Computational Biology · May 29, 2014Peer-reviewedBioinformatics