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

Publication date: Available online 30 June 2020Source: The Journal of Molecular DiagnosticsAuthor(s): Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, Davide Piscia, Elisabetta Mereu, Gemma Bullich, Rachel Thompson, Rita Horvath, Luis Pérez-Jurado, Olaf Riess, Ivo Gut, Gert-Jan van Ommen, Hanns Lochmüller, Sergi Beltran, RD-Connect GPAP and URD-Cat data contributors
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research