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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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Diagnostic yield of genetic screening in a diverse, community-ascertained cohort
BackgroundPopulation screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention....
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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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High sensitivity flow cytometry immunophenotyping increases the diagnostic yield of malignant pleural effusions
Diagnosing malignant pleural effusions (MPE) is challenging when patients lack a history of cancer and cytopathology does not detect malignant cells...
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Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review
Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for...
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Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
Here we report the results of a retrospective germline analysis of 6941 individuals fulfilling the criteria necessary for genetic testing of...
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
BackgroundWhole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many...
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Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia
BackgroundHereditary hemolytic anemia (HHA) refers to a heterogeneous group of genetic disorders that share one common feature: destruction of...
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Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients
BackgroundGenetic testing (GT) for hereditary cancer predisposition is traditionally performed on selected genes based on established guidelines for...
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An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases
Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this task, we describe a machine...
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Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
Pharmacoresistant epilepsy presenting during infancy poses both diagnostic and therapeutic challenges. We aim to identify diagnostic yield and...
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The diagnostic yield of the Meares & Stamey test can be significantly improved by symptom-based patient selection and the experience of the test performer
BackgroundEven if Meares-Stamey 4-glass (M&S) test is regarded a decisive tool for diagnosing prostatitis its use is only rarely performed in...
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Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation
The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro...
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Diagnostic yield and recognized barriers of an adult neurogenetics clinic
The advent of molecular genetic technologies paved a path for the diagnosis of many neurological disorders. Joint evaluation by a neurologist and a...
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Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme
BackgroundCombining the faecal immunochemical test (FIT) result with risk factors for advanced neoplasia (AN) may increase the yield of colorectal...
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Diagnostic Procedure
In the case of clinical suspicion that a chromosome aberration is present, it is necessary, first of all, to consider the somatic cell system...
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Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
Previous studies using whole exome sequencing (WES) have shown that a significant proportion of adult patients with undiagnosed ataxia in European...
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Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders
Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing...
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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
BackgroundSkeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and...
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Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is...
