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

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...

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Bibliographic Details
Published in:J Mol Diagn
Main Authors: 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
Format: Artigo
Language:Inglês
Published: American Society for Investigative Pathology 2020
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7477492/
https://ncbi.nlm.nih.gov/pubmed/32619640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2020.06.008
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