ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
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- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Considerations for reporting variants in novel candidate genes identified during clinical genomic testing.bioRxiv : the preprint server for biology · 2024Article
- New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.Journal of human genetics · 2024Article
- Single-cell long-read sequencing in human cerebral organoids uncovers cell-type-specific and autism-associated exons.Cell reports · 2023Article
- A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability.Neurogenetics · 2023Article
- Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.Cell genomics · 2023Article
- LRRTM3 Genetic Variations, rs1925575, and rs1925608 Contributed to Autism Spectrum Disorder Trait Severity: An Observation in The Indian Probands.International journal of molecular and cellular medicine · 2023Article
- AFrontiers in pediatrics · 2023Article
- Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.Genome medicine · 2022Article
- Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.Human mutation · 2022Article
- Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.Experimental neurobiology · 2022Review
- Case Report: Exome and RNA Sequencing Identify a NovelFrontiers in genetics · 2022Article
- Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting.Oncoimmunology · 2022Article
- De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.NPJ genomic medicine · 2021Article
- One is the loneliest number: genotypic matchmaking using the electronic health record.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.Journal of inherited metabolic disease · 2021Article
- Neurofascin antibodies in chronic inflammatory demyelinating polyradiculoneuropathy: from intrinsic genetic background to clinical manifestations.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
Corrections and comments
- Erratum issued
Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeDiagnostic exome sequencing (DES) is now a commonly ordered test for individuals with undiagnosed genetic disorders. In addition to providing a diagnosis for characterized diseases, exome sequencing has the capacity to uncover novel candidate genes for disease.
methodsFamily-based DES included analysis of both characterized and novel genetic etiologies. To evaluate candidate genes for disease in the clinical setting, we developed a systematic, rule-based classification schema.
resultsTesting identified a candidate gene among 7.7% (72/934) of patients referred for DES; 37 (4.0%) and 35 (3.7%) of the genes received evidence scores of "candidate" and "suspected candidate," respectively. A total of 71 independent candidate genes were reported among the 72 patients, and 38% (27/71) were subsequently corroborated in the peer-reviewed literature. This rate of corroboration increased to 51.9% (27/52) among patients whose gene was reported at least 12 months previously.
conclusionsHerein, we provide transparent, comprehensive, and standardized scoring criteria for the clinical reporting of candidate genes. These results demonstrate that DES is an integral tool for genetic diagnosis, especially for elucidating the molecular basis for both characterized and novel candidate genetic etiologies. Gene discoveries also advance the understanding of normal human biology and more common diseases.Genet Med 19 2, 224-235.
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