Y
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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Journal ArticleDOI
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans
H Sun,Z Ma,Yingrui Li,Bingya Liu,Zhiqiang Li,X Ding,Y Gao,Wujun Ma,X Tang,Xue Li,Yiping Shen +10 more
TL;DR: This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans and results in a glycine to valine residue (GTC) substitution in codon 18 (NP_060011).
Journal ArticleDOI
Diverse modes of genomic alteration in hepatocellular carcinoma
Suchit Jhunjhunwala,Zhaoshi Jiang,Eric Stawiski,Florian Gnad,Jinfeng Liu,Oleg Mayba,Pan Du,Jingyu Diao,Stephanie Johnson,Kwong-Fai Wong,Zhibo Gao,Yingrui Li,Thomas D. Wu,Sharookh B. Kapadia,Zora Modrusan,Dorothy French,John M. Luk,John M. Luk,John M. Luk,Somasekar Seshagiri,Zemin Zhang +20 more
TL;DR: Deep-sequence 42 HCC patients with a combination of whole genome, exome and transcriptome sequencing identify the mutational landscape of HCC and find frequent mutations in TP53, CTNNB1 and AXIN1, and rare but likely functional mutations in BAP1 and IDH1.
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Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.
Michael L. Nickerson,Garrett M. Dancik,Kate M. Im,Michael G. Edwards,Sevilay Turan,Joseph Brown,Christina T. Ruiz-Rodriguez,Charles Owens,James C. Costello,Guangwu Guo,Shirley Tsang,Yingrui Li,Quan Zhou,Zhiming Cai,Lee E. Moore,M. Scott Lucia,Michael Dean,Dan Theodorescu +17 more
TL;DR: This study is the first to identify frequent BAP1 and BRCA pathway alterations in bladder cancer, show TERT promoter alterations are independent of other bladder cancer gene alterations, and show KDM6A loss is a driver of the bladder cancer phenotype.
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Extensive X-linked adaptive evolution in central chimpanzees
Christina Hvilsom,Yu Qian,Thomas Bataillon,Yingrui Li,Thomas Mailund,Bettina Sallé,Frands Carlsen,Ruiqiang Li,Hancheng Zheng,Tao Jiang,Hui Jiang,Xin Jin,Kasper Munch,Asger Hobolth,Hans R. Siegismund,Jun Wang,Mikkel H. Schierup +16 more
TL;DR: It is concluded that most adaptive mutations are recessive in chimpanzees and this results provide an explanation for the much-discussed reduction in the human–chimpanzee divergence at the X chromosome.
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High-coverage sequencing and annotated assemblies of the budgerigar genome
Ganeshkumar Ganapathy,Jason T. Howard,James M. Ward,Jianwen Li,Bo Li,Yingrui Li,Yingqi Xiong,Yong Zhang,Shiguo Zhou,David C. Schwartz,Michael C. Schatz,Robert Aboukhalil,Olivier Fedrigo,Lisa Bukovnik,Ty Wang,Greg Wray,Isabelle Rasolonjatovo,Roger Winer,James R. Knight,Sergey Koren,Wesley C. Warren,Guojie Zhang,Adam M. Phillippy,Erich D. Jarvis +23 more
TL;DR: Across several quality metrics, these budgerigar assemblies are comparable to or better than the chicken and zebra finch genome assemblies built from traditional Sanger sequencing reads, and are sufficient to analyze regions that are difficult to sequence and assemble.