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Article

Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa.

BioMed research international - 1 Jan 2014

Wu Juan, Chen Lijia, Tam Oi Sin, Huang Xiu-Feng, Pang Chi-Pui, Jin Zi-Bing

Abstract excerpt

Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP), the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order...

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Identifiers

PMID: 25101269
DOI: 10.1155/2014/302487
PMCID: PMC4102027

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