The DOI matches its Crossref record; the references it cites are not checked yet.
Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions
Open accessOverview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The findings support the concept that standard NGS-based methodologies are not yet suitable for the genetic testing of RCCX module genes within the homologous window, not only for CYP21A2 but also for TNXB exons 32-44.
“Finally, our findings support the concept that standard NGS-based methodologies are not yet suitable for the genetic testing of RCCX module genes within the homologous window, not only for CYP21A2 but also for TNXB exons 32–44 [14,31,41].”
From Pseudogene TNXA Variants May Interfere with the Genetic Testing of CAH-X (2023) · cites this paper as [41]
The Abstract says standard NGS enrichment may fail to distinguish CYP21A2 from its highly homologous pseudogene, supporting the concern about CYP21A2 testing. It does not evaluate TNXB exons 32–44 or establish that standard NGS methods are unsuitable for those exons. (LLM, conf=0.87)
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
The citation lists haven’t been fetched yet
References 3 · Cited by 11
Research works printed but not linked: 1
- Nimkarn S, New MI. 21-Hydroxylase-deficient congenital adrenal hyperplasia. Gene Reviews NCBI Bookshelf ID: NBK1171, PMID: 20301350 (Last revision: 2010).
Metadata
- Authors
- Mueller, P. W., Lyons, J., Kerr, G., Haase, C. P., & Isett, R. B.
- Affiliations
- Centers for Disease Control and Prevention (US)
- Emory University (US)
- Corresponding author
- Mueller, Patricia W.
- ORCID
- Isett, R. Benjamin
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2013-11
- Volume
- 15
- Issue
- 11
- Pages
- 910-911
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2030513557
- Cited by
- 11
- References
- 3
- Citations by year
- 2024: 2 · 2023: 1 · 2022: 1 · 2021: 1 · 2019: 1 · 2018: 1 · 2015: 1 · 2014: 3
- FWCI
- 0.88
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
- Keywords
- targeted next-generation sequencing, sample enrichment, newborn screening, recessive genetic diseases, screening test validation
- MeSH terms
- Child, Genes, Recessive, Humans, Infant, Newborn, Mutation, Genome, Human, Sequence Analysis, DNA, Genomics, DNA Repeat Expansion, High-Throughput Nucleotide Sequencing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
