ArticleNPJ genomic medicine2025
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- The importance and clinical utility of reanalysis of exome and genome sequencing data.Kidney research and clinical practice · 2026Article
- Clinical application of whole exome and genome sequencing in pediatric neurodevelopmental disorders.Clinical and experimental pediatrics · 2026Article
- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Orphanet journal of rare diseases · 2026Article
- BiallelicFrontiers 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
- RNA-guided clarity: The potential for resolving variant uncertainty in clinical exome sequencing.Genetics in medicine open · 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
- Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center.Molecular genetics and metabolism reports · 2025Article
Corrections and comments
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Authors and funding
17 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. The overall diagnostic rate was 31.8%. Dermatological disorders, skeletal disorders, and neurodevelopmental disorders disease categories, early age-of-onset, presence of consanguinity, and the presence of parental sequencing data were found to be correlated with a higher diagnostic rate. Nearly 68K variants were identified in our dataset at a higher frequency than that observed in gnomAD 4.0. Of these, 507 variants could be classified as likely benign, representing 0.04% of non-benign variants in ClinVar (507/1,433,904) and 0.20% of the non-benign ClinVar variants observed at least once in our cohort (507/276,777). The overall diagnostic rate is comparable to that observed in other large cohort studies with less diverse ethnic backgrounds.
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Registered trials
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