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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
Intellectual disability (ID) has a prevalence of 1–3% and aproximately 30–50% of ID cases have a genetic cause. Development of next-generation...
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Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study
BackgroundGenetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through...
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Clinical Utility of Proband Only Clinical Exome Sequencing in Neurodevelopmental Disorders
Chromosomal microarray is recommended as the first line of investigation in neurodevelopmental disorders (NDDs). However, advances in next-generation...
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Functional analysis and validation of oncodrive gene AP3S1 in ovarian cancer through filtering of mutation data from whole-exome sequencing
BackgroundHigh-grade serous ovarian carcinoma (HGSOC) is the most aggressive and prevalent subtype of ovarian cancer and accounts for a significant...
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Whole exome sequencing in a sample of Egyptian patients with covert cerebral small vessel disease
BackgroundCovert cerebral small vessel disease (cCSVD) is associated with many age-related morbidities with little available data regarding the...
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Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases
BackgroundThough next-generation sequencing (NGS) tests like exome sequencing (ES), genome sequencing (GS), and panels derived from exome and genome...
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Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
A growing number of druggable targets and national initiatives for precision oncology necessitate broad genomic profiling for many cancer patients....
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Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas
ObjectivesNeurocytomas (NCs) are rare intracranial tumors that can often be surgically resected. However, disease course is unpredictable in many...
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Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q
BackgroundPatients with complex phenotypes and a chromosomal translocation are particularly challenging, since several potentially pathogenic...
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The role of exome sequencing in childhood interstitial or diffuse lung disease
BackgroundChildren’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a...
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Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy
ObjectivesTo unveil the candidate susceptibility genes in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy using whole exome sequencing (WES) and...
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Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review
Diagnosis of neuromuscular diseases (NMD) can be challenging because of the heterogeneity of this group of diseases. This review aimed to describe...
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Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective
Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased...
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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients...
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Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia
Schizophrenia (SCZ), which affects approximately 1% of the world’s population, is a global public health concern. It is generally considered that the...
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Whole-exome sequencing reveals mutational profiles of anorectal and gynecological melanoma
Mucosal melanoma is a rare and highly malignant type of melanoma. Among the sites that mucosal melanoma arises, anorectal and gynecological melanoma...
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Whole exome sequencing of FFPE samples—expanding the horizon of forensic molecular autopsies
Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden...
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Whole-exome sequencing analysis identifies novel variants associated with Kawasaki disease susceptibility
BackgroundKawasaki disease (KD) is an acute pediatric vasculitis affecting genetically susceptible infants and children. Although the pathogenesis of...
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Intrathyroid thymic carcinoma: clinicopathological features and whole exome sequencing analysis
Intrathyroid thymic carcinoma (ITC) is a rare malignant tumour. We present nine cases of ITC that were analysed by immunohistochemical staining, of...
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Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders
Genetic diseases are medical conditions caused by sequence or structural changes in an individual’s genome. Whole exome sequencing (WES) and whole...
