Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

BackgroundInherited retinal degenerations (IRDs) are a common cause of visual disturbance with a high clinical and genetic heterogeneity. Recent sequencing techniques such as whole exome sequencing (WES) contribute to the discovery of novel genes. The aim of the current study was to use WES data to...

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Veröffentlicht in:Journal of medical genetics 2016-09, Vol.53 (9), p.600-607
Hauptverfasser: Khateb, Samer, Hanany, Mor, Khalaileh, Ayat, Beryozkin, Avigail, Meyer, Segev, Abu-Diab, Alaa, Abu Turky, Fathieh, Mizrahi-Meissonnier, Liliana, Lieberman, Sari, Ben-Yosef, Tamar, Banin, Eyal, Sharon, Dror
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Sprache:eng
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