ArticleMolecular genetics & genomic medicine2013
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Article in Molecular genetics & genomic medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 29 citations in OpenAlex.
- Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.Journal of the peripheral nervous system : JPNS · 2026Article
- A novel humanized mouse model exhibits neurobehavioral impairments and recapitulates key neuropathological features of infantile Tay-Sachs disease.Journal of neuroinflammation · 2026Article
- Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing.Frontiers in genetics · 2023Article
- Review
- Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.The Clinical biochemist. Reviews · 2020Review
- Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.Molecular genetics & genomic medicine · 2020Article
- Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.Molecular genetics & genomic medicine · 2019Article
- Diagnostic methods for Lysosomal Storage Disease.Reports of biochemistry & molecular biology · 2019Article
- Genetics and Therapies for GM2 Gangliosidosis.Current gene therapy · 2018Review
- Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.Genetic testing and molecular biomarkers · 2016Article
- Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.BMC medical genomics · 2016Article
- Changing trends in carrier screening for genetic disease in the United States.Prenatal diagnosis · 2015Review
- Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.Journal of genetic counseling · 2015Article
- Tay-Sachs disease: current perspectives from Australia.The application of clinical genetics · 2015Review
- Lysosomal storage diseases in North America: a comprehensive review of enzyme therapies and unmet needs.Therapeutic advances in rare diseaseReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ∼1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ∼98%), but has technical limitations. We compared DNA analysis by next-generation DNA sequencing (NGS) plus an assay for the 7.6 kb deletion to enzyme analysis for TSD carrier screening using 74 samples collected from participants at a TSD family conference. Fifty-one of 74 participants had positive enzyme results (46 carriers, five late-onset Tay-Sachs [LOTS]), 16 had negative, and seven had inconclusive results. NGS + 7.6 kb del screening of HEXA found a pathogenic mutation, pseudoallele, or variant of unknown significance (VUS) in 100% of the enzyme-positive or obligate carrier/enzyme-inconclusive samples. NGS detected the B1 allele in two enzyme-negative obligate carriers. Our data indicate that NGS can be used as a TSD clinical carrier screening tool. We demonstrate that NGS can be superior in detecting TSD carriers compared to traditional enzyme and genotyping methodologies, which are limited by false-positive and false-negative results and ethnically focused, limited mutation panels, respectively, but is not ready for sole use due to lack of information regarding some VUS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.