Article
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
The Journal of molecular diagnostics : JMD - 1 Sept 2020
Matalonga Leslie, Laurie Steven, Papakonstantinou Anastasios, Piscia Davide, Mereu Elisabetta, Bullich Gemma, Thompson Rachel, Horvath Rita, Pérez-Jurado Luis, Riess Olaf, Gut Ivo, van Ommen Gert-Jan, Lochmüller Hanns, Beltran Sergi
Abstract excerpt
Autozygosity is associated with an increased risk of genetic rare disease, thus being a relevant factor for clinical genetic studies. More than 2400 exome sequencing data sets were analyzed and screened for autozygosity on the basis of detection of >1 Mbp runs of homozygosity (ROHs). A model was built to predict if an individual is likely to be a consanguineous offspring (accuracy, 98%), and probability of...
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