Detecting Pedigree Relationship Errors

Pedigree relationship errors often occur in family data collected for genetic studies, and unidentified errors can lead to either increased false positives or decreased power in both linkage and association analyses. Here we review several allele sharing, as well as likelihood-based statistics, that were proposed to efficiently extract genealogical information from available genome-wide marker data, and the software package PREST that implements these methods. We provide detailed analytical steps involved using two application examples, and we discuss various practical issues including results interpretation.