Results 21 to 30 of about 259,398 (214)
Background Pathogenic mutations in EVC or EVC2 gene can lead to Ellis‐van Creveld (EvC) syndrome, which is a rare autosomal recessive skeletal dysplasia disorder.
Jianlong Zhuang+7 more
doaj +1 more source
Analysis of Archived Residual Newborn Screening Blood Spots After Whole Genome Amplification [PDF]
Deidentified newborn screening bloodspot samples (NBS) represent a valuable potential resource for genomic research if impediments to whole exome sequencing of NBS deoxyribonucleic acid (DNA), including the small amount of genomic DNA in NBS material ...
Benstead-Hume, Graeme+7 more
core +3 more sources
Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis. [PDF]
BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features.
Barker, R+5 more
core +1 more source
Whole-exome sequencing study of hypospadias
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen+7 more
doaj
Detection of Somatic Copy Number Alterations in Cancer Using Targeted Exome Capture Sequencing
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
Using linkage analysis of large pedigrees to guide association analyses [PDF]
To date, genome-wide association studies have yielded discoveries of common variants that partly explain familial aggregation of diseases and traits. Researchers are now turning their attention to less common variants because the price of sequencing has ...
Chunyu Liu+9 more
core +3 more sources
Detecting identity by descent and homozygosity mapping in whole-exome sequencing data. [PDF]
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
Sacral agenesis: a pilot whole exome sequencing and copy number study [PDF]
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
Background/ObjectivesWhole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions.
Mohammed Dashti+9 more
doaj +1 more source
Whole-Exome Sequencing in Familial Parkinson Disease [PDF]
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
Boerwinkle, Eric+25 more
core +1 more source