Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis | Zendy

Frauke Coppieters | Zendy; Bram De Wilde | Zendy; Steve Lefever | Zendy; Ellen De Meester | Zendy; Nina De Rocker | Zendy; Caroline Van Cauwenbergh | Zendy; Filip Pattyn | Zendy; Françoise Meire | Zendy; Bart P. Leroy | Zendy; Jan Hellemans | Zendy; Jo Vandesompele | Zendy; Elfride De Baere | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis

Author(s) -

Frauke Coppieters,

Bram De Wilde,

Steve Lefever,

Ellen De Meester,

Nina De Rocker,

Caroline Van Cauwenbergh,

Filip Pattyn,

Françoise Meire,

Bart P. Leroy,

Jan Hellemans,

Jo Vandesompele,

Elfride De Baere

Publication year - 2012

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.2011.51

Subject(s) - massive parallel sequencing , massively parallel , medicine , computer science , dna sequencing , genetics , biology , gene , parallel computing

Leber congenital amaurosis (LCA) is a rare congenital retinal dystrophy associated with 16 genes. Recent breakthroughs in LCA gene therapy offer the first prospect of treating inherited blindness, which requires an unequivocal and early molecular diagnosis. While present genetic tests do not address this due to a tremendous genetic heterogeneity, massively parallel sequencing (MPS) strategies might bring a solution. Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research