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Yingrui Li

Researcher at Beijing Institute of Genomics

Publications -  182
Citations -  90736

Yingrui Li is an academic researcher from Beijing Institute of Genomics. The author has contributed to research in topics: Genome & Exome sequencing. The author has an hindex of 100, co-authored 182 publications receiving 76181 citations. Previous affiliations of Yingrui Li include South China University of Technology & University of Southern Denmark.

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Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosa

TL;DR: A four-generation Chinese family with RP, during which 6 from 9 members of the second generation affected the disease, is reported, to enhance the current understanding of the genetic basis of RP and provide helpful clues for designing future studies to further investigate genetic factors for familial RP.
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Whole-Exome Sequencing Reveals Increased Burden of Rare Functional and Disruptive Variants in Candidate Risk Genes in Individuals With Persistent Attention-Deficit/Hyperactivity Disorder

TL;DR: Many studies have attempted to identify genetic risk loci for the disorder, including numerous candidate gene studies and several moderately sized genome-wide association studies, the largest by the Psychiatric Genomics Consortium, but so far no single markers have passed the threshold for genome- wide significance.
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An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

TL;DR: ExoCNVTest: an exome sequencing analysis pipeline to identify disease-associated CNVs and to generate absolute copy number genotypes at putatively associated loci and re-discovered the LCE3B_LCE3C CNV association with psoriasis while controlling inflation of test statistics.