Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity

Autozygosity is associated with an increased risk of genetic rare disease (RD), thus being a relevant factor for clinical genetic studies. More than 2400 ES datasets were analysed and screened for autozygosity based on detection of>1Mbp runs of homozygosity (ROH). A model was built to predict if an individual is likely to be a consanguineous offspring (accuracy 98%) and “probability of consanguinity” ranges were established according to the total ROH size. Application of the model resulted in the re-classification of the consanguinity status of 12% of the patients.

Source: Journal of Molecular Diagnostics - June 29, 2020 Category: Pathology Authors: Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis P érez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, RD-Connect GPAP an Source Type: research