De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
core +8 more sources
Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
, 2016 Background: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower ...
Campbell, Desmond D. +11 more
core +1 more source
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants [PDF]
Proceedings of the National Academy of Sciences, 2014 AbstractWe compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample were 84,192 and 13,325, respectively, for WES ...
Belkadi, Aziz +9 more
openaire +2 more sources
From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement
Frontiers in Plant Science, 2017 Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj +1 more source
Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
Journal of Medical Case Reports, 2023 Background Hereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and brainstem, leading to difficulty in controlling balance and muscle coordination.
Niharika Duggirala +4 more
doaj +1 more source
Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
Neoplasia: An International Journal for Oncology Research, 2011 The research community at large is expending considerable resources to sequence the coding region of the genomes of tumors and other human diseases using targeted exome capture (i.e., “whole exome sequencing”).
Robert J. Lonigro +9 more
doaj +1 more source
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 and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
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
openaire +2 more sources
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