Results 51 to 60 of about 357,319 (349)

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

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 ...
openaire   +2 more sources

Whole Exome Sequencing: The Tip of the Iceberg

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

Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma [PDF]

Cancers, 2021
Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma.
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom   +12 more
openaire   +2 more sources

Whole exome sequencing coverage. [PDF]

, 2015
Whole exome sequencing coverage.
Jeffery M. Klco (131579), Jacqueline L. Mudd (709845), Charles Lu (33589), Robert Fulton (252141), Michelle O'Laughlin (709846), Catrina Fronick (252126), Timothy J. Ley (131582), Daniel R. George (709844), Nichole M. Helton (709843), Richard K. Wilson (13401), Cheng Li (6339), Christopher A. Miller (231205)   +11 more
core   +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

The promise of whole-exome sequencing in medical genetics [PDF]

Journal of Human Genetics, 2013
Massively parallel DNA-sequencing systems provide sequence of huge numbers of different DNA strands at once. These technologies are revolutionizing our understanding in medical genetics, accelerating health-improvement projects, and ushering to a fully understood personalized medicine in near future.
Rabbani, B., Tekin, M., Mahdieh, N.
openaire   +2 more sources

WEGS: a cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome [PDF]

, 2023
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps elucidate the genetic underpinnings of human health and diseases.
Wei, Claire, Schindewolf, Marc, Bourque, Guillaume, Baumgartner, Iris, Mooser, Vincent, Taliun, Daniel, Paccard, Antoine, Perley, Danielle, Bourgey, Mathieu, Caron, Elizabeth, Asbah, Nimara Bader, Lefebvre, François, Döring, Yvonne, Eveleigh, Robert, Ravindran, Praveen Nadukkalam, Trajanoska, Katerina, St-Cry, Janick, Ragoussis, Jiannis, Bhérer, Claude, Lepage, Pierre   +19 more
core   +1 more source

Whole-exome sequencing of rectal neuroendocrine tumors

Endocrine-Related Cancer, 2023
The genetic characteristics of rectal neuroendocrine tumors (R-NETs) were poorly understood. Depicting the genetic characteristics may provide a biological basis for prognosis prediction and novel treatment development. Tissues of 18 R-NET patients were analyzed using whole-exome sequencing.
Yuanliang Li, Yiying Guo, Zixuan Cheng, Chao Tian, Yingying Chen, Ruao Chen, Fuhuan Yu, Yanfen Shi, Fei Su, Shuhua Zhao, Zhizheng Wang, Jie Luo, Huangying Tan   +12 more
openaire   +2 more sources

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
core   +2 more sources