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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Investigative Pathology
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477492/ https://www.ncbi.nlm.nih.gov/pubmed/32619640 http://dx.doi.org/10.1016/j.jmoldx.2020.06.008 |
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