Results 41 to 50 of about 2,882,377 (304)
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
Sample coverage information from whole exome sequencing analysis.
, 2023 Sample coverage information from whole exome sequencing analysis.
Ahmet Acar (15008049) +3 more
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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: The Tip of the Iceberg
Journal of the College of Physicians and Surgeons Pakistan, 2022 Null.
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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
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 +12 more
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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 in familial atrial fibrillation [PDF]
European Heart Journal, 2014 Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF.WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare
Peter, Weeke +9 more
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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
Whole-exome sequencing quality data.
, 2018 Whole-exome sequencing quality data.
Jens Magnus Bernth Jensen (216015) +3 more
core +1 more source