Results 31 to 40 of about 2,882,218 (304)
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 +14 more
openaire +5 more sources
Characteristics of study sample for whole exome sequencing.
, 2022 Characteristics of study sample for whole exome sequencing.
Pingxing Xie (290131) +9 more
core +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
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 +12 more
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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 +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 +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 +11 more
doaj +1 more source
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 +19 more
core +2 more sources
Whole-exome sequencing quality data.
, 2018 Whole-exome sequencing quality data.
Jens Magnus Bernth Jensen (216015) +3 more
core +1 more source