In comparative family exome diagnostics, not only the affected patient but also other relatives are sequenced. The most commonly performed analysis is the trio exome: The inclusion of both unaffected parents of the index patient highly increases the chances of diagnostic success to be approximately twice as high compared to single exome diagnostics1.
In family constellations where it is not possible to obtain a sample from both genetic parents, or one parent might be affected as well, the adaptive ExomeXtra® bioinformatic pipeline allows us to analyze all kinds of family combinations, like duos.
This goes beyond commonly performed analyses of private and shared variants between two persons. Our additional analyses are the best approach for solving cases with only one parent (affected or unaffected) or any other indexrelative constellations. A detailed phenotypic description of all affected individuals is the basis for a precise and successful data interpretation.