Article

Systematic detection of Mendelian and non-Mendelian variants associated with retinitis pigmentosa by genome-wide association study

2019-12-01

Abstract excerpt

To uncover genetic basis of autosomal recessive retinitis pigmentosa (ARRP), we applied 2-step genome-wide association study (GWAS) in 640 Japanese patients prescreened with targeted re-sequencing. Meta-GWAS identified three independent peaks at P < 5.0×10 -8 , all within the major ARRP gene EYS . Two were each tagged by a low frequency variant (allele frequency < 0.05); a known founder Mendelian mutation (c.49...

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Literature Corpus work: 353f5608-d759-5d46-9a13-1b57b06359a8
DOI: 10.1101/859744

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