Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations | Zendy

Kinga M. Bujakowska | Zendy; Rosario FernándezGodino | Zendy; Emily Place | Zendy; Mark Consugar | Zendy; Daniel Navarro-Gomez | Zendy; Joseph White | Zendy; Emma Bedoukian | Zendy; Xiaosong Zhu | Zendy; Hongbo Xie | Zendy; Xiaowu Gai | Zendy; Bart P. Leroy | Zendy; Eric A. Pierce | Zendy

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Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

Author(s) -

Kinga M. Bujakowska,

Rosario FernándezGodino,

Emily Place,

Mark Consugar,

Daniel Navarro-Gomez,

Joseph White,

Emma Bedoukian,

Xiaosong Zhu,

Hongbo Xie,

Xiaowu Gai,

Bart P. Leroy,

Eric A. Pierce

Publication year - 2016

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2016.158

Subject(s) - genetics , biology , copy number variation , sanger sequencing , gene , structural variation , genome , single nucleotide polymorphism , retinitis pigmentosa , mutation , genotype

Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs.

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