Results 351 to 360 of about 1,041,152 (399)

CNVs from exome sequencing [PDF]

Nature Biotechnology, 2012
openaire   +1 more source

Comparative analysis of whole exome sequencing kits for the canine genome. [PDF]

PLoS One
Jang J, Lee YJ, Ko S, Abd El-Aty AM, Gecili I, Jeong JH, Kwon C, Jung TW.   +7 more
europepmc   +1 more source

Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma-A Pilot Study. [PDF]

Int J Mol Sci
Oelschläger L, Künstner A, Frey F, Leitner T, Leypoldt L, Reimer N, Gebauer N, Bastian L, Weisel K, Sailer VW, Röcken C, Klapper W, Konukiewitz B, Murga Penas EM, Forster M, Schub N, Ahmed HMM, Kirfel J, von Bubnoff NCC, Busch H, Khandanpour C.   +20 more
europepmc   +1 more source

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

, 2012
Yun Wang, Liheng Guo, Suping Cai, Meizhi Dai, Qiaona Yang, Wenhan Yu, Naihong Yan, Xiaomin Zhou, Jin Fu, Xinwu Guo, Pengfei Han, Jun Wang, Xuyang Liu   +12 more
openalex   +2 more sources

Genetic variants associated with physiological and biochemical indicators: A multi-centre whole-exome sequencing study of Chinese healthy participants. [PDF]

Clin Transl Med
Wang Z, Liu Z, Mu G, Xie Q, Zhou S, Wang Z, Cui Y, Xiang Q, IMPACT Study Group.   +8 more
europepmc   +1 more source

The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses. [PDF]

Prenat Diagn
Chandler N, Holder-Espinasse M, Mone F.
europepmc   +1 more source

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing. [PDF]

Int J Mol Sci
Moon Y, Hong CH, Kim YH, Kim JK, Ye SH, Kang EK, Choi HW, Cho H, Choi H, Lee DE, Choi Y, Kim TM, Heo SG, Han N, Hong KM.   +14 more
europepmc   +1 more source

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer. [PDF]

J Ovarian Res
Chiang YC, Huang HN, Kuo KT, Hwu WL, Lin PH.   +4 more
europepmc   +1 more source

Corrigendum: Application of rapid clinical exome sequencing technology in the diagnosis of critically ill pediatric patients with suspected genetic diseases. [PDF]

Front Genet
Ouyang X, Chi D, Zhang Y, Yu T, Zhang Q, Xu L, Zhang VW, Wang B.   +7 more
europepmc   +1 more source

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series. [PDF]

Diagnostics (Basel)
Fang HH, Lee CL, Chen HJ, Chuang CK, Chiu HC, Chang YH, Tu YR, Lo YT, Lin HY, Lin SP.   +9 more
europepmc   +1 more source