Search
Search Results
-
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
BackgroundLong-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible...
-
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
BackgroundExome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and...
-
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
-
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
To date, approximately 50 short tandem repeat (STR) disorders have been identified; yet, clinical laboratories rarely conduct STR analysis on exomes....
-
The clinical utility of rapid exome sequencing in a consanguineous population
BackgroundThe clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome...
-
Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness...
-
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with...
-
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding DNA regions and helps...
-
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While standardized methods, such as the genome analysis toolkit...
-
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we...
-
Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Linkage and candidate gene studies have identified several breast cancer susceptibility genes, but the overall contribution of coding variation to...
-
Assessment of whole-exome sequencing results in neurogenetic diseases
Neurogenetic diseases are rare genetic diseases in which neurological findings are prominent. Whole exome sequencing (WES) has led to great advances...
-
Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing
The COVID-19 pandemic remains a significant public health concern despite the new vaccines and therapeutics. The clinical course of acute SARS-CoV-2...
-
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
BackgroundCongenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of...
-
Whole-exome sequencing reveals candidate high-risk susceptibility genes for endometriosis
BackgroundEndometriosis is a common, chronic disease among fertile-aged women. Disease course may be highly invasive, requiring extensive surgery....
-
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less focus on underrepresented...
-
GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
-
Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study)
Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for...
-
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis
In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We...
-
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
BackgroundGenodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders....
