Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

Summary

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Authors: 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, Alessandra Renieri, Ali Dursun, Antoni Matilla-Duenas, Bru Cormand, Carlo Rivolta, Carmen Ayuso, Carmen Espinós, Christian Scerri, Dilek Yalnizoglu, Doriette Soler

Journal title: The Journal of Molecular Diagnostics

Journal number: 22/9

Journal publisher: American Society for Investigative Pathology

Published year: 2020

Published pages: 1205-1215

DOI identifier: 10.1016/j.jmoldx.2020.06.008

ISSN: 1525-1578