ArticleClinical genetics2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Article in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers.
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Who cites it
108 citing papers in PubMed, 164 citations in OpenAlex.
- Novel genetic variants and atypical phenotypes in pediatric progressive familial intrahepatic cholestasis.Pediatric research · 2026Article
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.Journal of clinical laboratory analysis · 2026Article
- Blue Rubber Bleb Nevus Syndrome with a Novel PDGFRA Variant and Comorbid Autism Spectrum Disorder: A Case Report.Children (Basel, Switzerland) · 2026Article
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Biochemical genetics · 2026Article
- Whole Exome Sequencing Reveals Promising Genes Associated with Congenital Renal Parenchymal Anomalies in Greek Children.Children (Basel, Switzerland) · 2026Article
- Expanding the genetic spectrum of neurogenetic disorders in moroccan families by exome sequencing: identification of candidate variants in RYR3, POLR3A, and LAMA2.Molecular biology reports · 2026Article
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- A de novo start-loss variant in the NIPBL gene causing mild type 1 Cornelia de Lange syndrome in an Iranian family: A Case Report.Journal of medical case reports · 2026Article
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.Clinical and experimental pediatrics · 2026Article
- Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome.Molecular and cellular pediatrics · 2026Article
- Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Journal of human genetics · 2026Article
- Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.BMC neurology · 2026Article
- Studies on intellectual disability identify variants in established genes as well as confirm candidature of new genes.Scientific reports · 2026Article
- Developmental and epileptic encephalopathies with germlineFrontiers in genetics · 2026Article
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain ofInternational journal of molecular sciences · 2025Article
- Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.NPJ genomic medicine · 2025Article
- Clinical and molecular characterization of 14 Egyptian children with fructose-1,6-bisphosphatase deficiency.Italian journal of pediatrics · 2025Observational
48 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
EVIDENCE, an automated variant prioritization system, has been developed to facilitate whole exome sequencing analyses. This study investigated the diagnostic yield of EVIDENCE in patients with suspected genetic disorders. DNA from 330 probands (age range, 0-68 years) with suspected genetic disorders were subjected to whole exome sequencing. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments. EVIDENCE reported a total 228 variants in 200 (60.6%) of the 330 probands. The average number of organs involved per patient was 4.5 ± 5.0. After clinical reassessment and/or family member testing, 167 variants were identified in 141 probands (42.7%), including 105 novel variants. These variants were confirmed as being responsible for 121 genetic disorders. A total of 103 (61.7%) of the 167 variants in 95 patients were classified as pathogenic or probably to be pathogenic before, and 161 (96.4%) variants in 137 patients (41.5%) after, clinical assessment and/or family member testing. Factor associated with a variant being regarded as causative includes similar symptom scores of a gene variant to the phenotype of the patient. This new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 42.7% diagnostic yield.
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