Results 141 to 150 of about 215,208 (174)

Implementation of a National Prenatal Exome Sequencing Service in England: Cost-Effectiveness Analysis. [PDF]

BJOG
Smith EJ, Hill M, Peter M, Wu WH, Mallinson C, Hardy S, Chitty LS, Morris S.   +7 more
europepmc   +1 more source

A Simple Method for Analyzing Exome Sequencing Data Shows Distinct Levels of Nonsynonymous Variation for Human Immune and Nervous System Genes

, 2012
Jan Freudenberg, Peter K. Gregersen, Yun Freudenberg‐Hua   +2 more
openalex   +2 more sources

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. [PDF]

NPJ Genom Med
Hahn E, Dharmadhikari AV, Markowitz AL, Estrine D, Quindipan C, Maggo SDS, Sharma A, Lee B, Maglinte DT, Shams S, Deardorff MA, Biegel JA, Gai X, Sun M, Schmidt RJ, Raca G, Ji J.   +16 more
europepmc   +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

RARE CODING MUTATIONS AND RISK FOR EARLY-ONSET MYOCARDIAL INFARCTION: AN EXOME SEQUENCING STUDY OF >2,000 CASES AND CONTROLS

, 2012
Nathan O. Stitziel
openalex   +1 more source

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

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

Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models

, 2012
T. Daniel Andrews, B Whittle, Matthew A. Field, Bhavani Balakishnan, Yuxi Zhang, Yi-Hong Shao, V. Cho, Martyn Kirk, Mandeep Singh, Yu Xia, Jörg Hager, S. Winslade, G. Sjollema, Bruce Beutler, Anselm Enders, Christopher C. Goodnow   +15 more
openalex   +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