Results 31 to 40 of about 102,585 (258)
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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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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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
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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
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Whole Exome Sequencing: The Tip of the Iceberg
Journal of the College of Physicians and Surgeons Pakistan, 2022 Null.
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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.
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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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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 +7 more
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A stroke gene panel for whole-exome sequencing [PDF]
European Journal of Human Genetics, 2018 Extensive analyses of known monogenic causes of stroke by whole-exome/genome sequencing are technically possible today. We here aimed to compile a comprehensive panel of genes associated with monogenic causes of stroke for use in clinical and research situations.
Andreea, Ilinca +5 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
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