TY  - GEN
AU  - Matalonga, Leslie
AU  - Laurie, Steven
AU  - Papakonstantinou, Anastasios
AU  - Piscia, Davide
AU  - Mereu, Elisabetta
AU  - Bullich, Gemma
AU  - Thompson, Rachel
AU  - Horvath, Rita
AU  - Pérez-Jurado, Luis Alberto
AU  - Riess, Olaf
AU  - Gut, Ivo
AU  - van Ommen, Gert-Jan
AU  - Lochmüller, Hanns
AU  - Beltran, Sergi
AU  - RD–Connect Genome-Phenome Analysis Platform
AU  - URD-Cat Data Contributors
AU  - Posada De la Paz, Manuel
PY  - 2020
DO  - 10.1016/j.jmoldx.2020.06.008
UR  - http://hdl.handle.net/20.500.12105/15568
AB  - 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...
LA  - eng
PB  - Elsevier
KW  - Homozygote
KW  - Consanguinity
KW  - Exome
KW  - Genome, Human
KW  - Humans
KW  - Models, Genetic
KW  - Molecular Diagnostic Techniques
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Rare Diseases
KW  - Exome Sequencing
TI  - Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
TY  - research article
ER  -