Results 41 to 50 of about 2,746,413 (301)

Whole‐exome sequencing for variant discovery in blepharospasm [PDF]

Molecular Genetics & Genomic Medicine, 2018
AbstractBackgroundBlepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplete penetrance, and late age of onset.
Jun Tian, Satya R. Vemula, Jianfeng Xiao, Enza Maria Valente, Giovanni Defazio, Simona Petrucci, Angelo Fabio Gigante, Monika Rudzińska‐Bar, Zbigniew K. Wszolek, Kathleen D. Kennelly, Ryan J. Uitti, Jay A. van Gerpen, Peter Hedera, Elizabeth J. Trimble, Mark S. LeDoux   +14 more
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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability [PDF]

, 2014
Background: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such trios.
Baralle, Diana, The DDD study, Swoboda, KJ, Taft, R, Magee, A. C., Swoboda, Kathryn J., Taft, R., Turnpenny, Peter D., Baralle, D., Swodboda, Kathryn J., Baralle, D, Hunt, D, Magee, A.C., Turnpenny, Perter D., Taft, Ryan J., Hunt, David, Gawne-Cain, M, Hunt, D., Turnpenny, P.D., Gawne-Cain, M., Simons, C, Leventer, R. J., D. D. D. study, Simons, C., Gwan-Cain, Mary, Magee, AC, Taft, Ryan, Turnpenny, PD, Swoboda, K. J., Simons, Cas, Gawne-Cain, Mary, Leventer, Richard J., Leventer, R.J., Leventer, RJ, Swoboda, K.J., Magee, Alex C.   +35 more
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Comparison of Variant Calls from Whole Genome and Whole Exome Sequencing Data Using Matched Samples

, 2018
Whole exome sequencing (WES) has been extensively used in genomic research. As sequencing costs decline it is being replaced by whole genome sequencing (WGS) in large-scale genomic studies, but more comparative information on WES and WGS datasets would ...
Sigurgeirsson, B., Pradhananga, Sailendra, Lundeberg, Joakim,, Sahlén, Pelin, Pradhananga, Sailendra,, Sahlén, Pelin,, Sigurgeirsson, Benjamin,, Lundberg, J., Green, Henrik, Björn, Niclas,, Gréen, Henrik,, Björn, Niclas, Pradhananga, S., Sigurgeirsson, Benjamin, Lundeberg, Joakim, Sahlén, P   +15 more
core   +3 more sources

Whole Exome Sequencing of Intracranial Aneurysm [PDF]

Stroke, 2013
The risk of intracranial aneurysm (IA) is increased among individuals with first-degree relatives with history of IA.1 A variety of approaches have been used to identify genes that contribute to the risk of IA.2–4 Genomewide association studies have identified and replicated associations on chromosome 4q31.23 ( EDNRA ), 8q12.1 ( SOX17 ), 9p21.3 ...
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Semantic prioritization of novel causative genomic variants.

PLoS Computational Biology, 2017
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today.
Imane Boudellioua, Rozaimi B Mahamad Razali, Maxat Kulmanov, Yasmeen Hashish, Vladimir B Bajic, Eva Goncalves-Serra, Nadia Schoenmakers, Georgios V Gkoutos, Paul N Schofield, Robert Hoehndorf   +9 more
doaj   +1 more source

Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]

PLoS ONE, 2012
The detection of genetic segments of Identical by Descent (IBD) in Genome-Wide Association Studies has proven successful in pinpointing genetic relatedness between reportedly unrelated individuals and leveraging such regions to shortlist candidate genes.
Zhong Zhuang, Alexander Gusev, Judy Cho, Itsik Pe'er   +3 more
doaj   +1 more source

Whole Exome Sequencing: The Tip of the Iceberg

Journal of the College of Physicians and Surgeons Pakistan, 2022
Null.
openaire   +3 more sources

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

PLoS ONE, 2014
Exome sequencing provides unprecedented insights into cancer biology and pharmacological response. Here we assess these two parameters for the NCI-60, which is among the richest genomic and pharmacological publicly available cancer cell line databases ...
William C Reinhold, Sudhir Varma, Fabricio Sousa, Margot Sunshine, Ogan D Abaan, Sean R Davis, Spencer W Reinhold, Kurt W Kohn, Joel Morris, Paul S Meltzer, James H Doroshow, Yves Pommier   +11 more
doaj   +1 more source

Case Report: Identification of a de novo Microdeletion 1q44 in a Patient With Seizures and Developmental Delay

Frontiers in Genetics, 2021
Objective: 1q44 microdeletion syndrome is difficult to diagnose due to the wide phenotypic spectrum and strong genetic heterogeneity. We explore the correlation between the chromosome microdeletions and phenotype in a child with 1q44 microdeletion ...
Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng   +7 more
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Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D., He, X, Liu, Li, Xin He, State, MW, Roeder, K, Gibbs, RA, Lim, ET, Elaine T Lim, Lim, Elaine, Schellenberg, Gerard, Sanders, SJ, Schellenberg, GD, Stephan J. Sanders (446495), Gerard D Schellenberg, He, Xin, James S. Sutcliffe (262611), Sanders, Stephan J., James S Sutcliffe, Stephan J Sanders, Gibbs, Richard A., Gerard D. Schellenberg (160086), Silvia De Rubeis (446496), State, Matthew W., Sanders, Stephan, Silvia De Rubeis, Sutcliffe, JS, Mark J Daly, Williams, Scott M., Xin He (48101), Bernie Devlin (228374), Buxbaum, Joseph D., Matthew W. State (446497), Devlin, B, Joseph D. Buxbaum (144578), Mark J. Daly (210204), Bernie Devlin, Liu, L, De Rubeis, Silvia, Roeder, Kathryn, Sutcliffe, James, Buxbaum, Joseph, Gibbs, Richard, Kathryn Roeder (228381), State, Matthew, Kathryn Roeder, Elaine T. Lim (171627), Richard A. Gibbs (94141), Joseph D Buxbaum, Daly, Mark J., Sutcliffe, James S., Daly, MJ, Buxbaum, JD, Matthew W State, Li Liu, De, S, Devlin, Bernie, Richard A Gibbs, Li Liu (75607), De Rubeis, S, Daly, Mark, Lim, Elaine T.   +61 more
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