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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...
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Whole-exome and targeted gene sequencing of large-cell lung carcinoma reveals recurrent mutations in the PI3K pathway
BackgroundLarge cell lung carcinoma (LCLC) is an exceptionally aggressive disease with a poor prognosis. At present, little is known about the...
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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...
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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...
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Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort
A cohort of polycystic ovary syndrome (PCOS) women presents themselves with persistent abnormal reproductive hormone levels and has a familial...
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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....
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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...
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Rabbit targeted genomic sequences after heterologous hybridization using human exome
ObjectiveCausal mutations for major genes that underlie a broad range of morphological traits are often located within exons of genes that then...
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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...
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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...
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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...
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Prognostic potential of whole exome sequencing in the clinical management of metachronous colorectal cancer liver metastases
BackgroundColorectal cancer is a highly prevalent and deadly. The most common metastatic site is the liver. We performed a whole exome sequencing...
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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...
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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...
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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...
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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...
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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...
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Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopment disorder that is typically characterized by debilitating episodic attacks of...
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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...
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Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye
Molecular diagnosis of inborn errors of immunity (IEI) plays a critical role in determining patients’ long-term prognosis, treatment options, and...
