ArticleMolecular genetics & genomic medicine2017
Pitfalls in genetic testing: a case of a SNP in primer-annealing region leading to allele dropout in
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 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
9 citing papers in PubMed, 15 citations in OpenAlex.
- Molecular Characterization and Prevalence ofPathogens (Basel, Switzerland) · 2026Article
- Confirmation of Exome Sequencing Results Using Sanger Sequencing-Considerations in a Low-Resource Setting.Molecular genetics & genomic medicine · 2026Article
- AnoPrimer: Primer Design in malaria vectors informed by range-wide genomic variation.Wellcome open research · 2024Article
- Article
- Legal Challenges in Precision Medicine: What Duties Arising From Genetic and Genomic Testing Does a Physician Owe to Patients?Frontiers in medicine · 2021Article
- Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP.Journal of clinical immunology · 2020Article
- Next-Generation Sequencing Technologies in Blood Group Typing.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2020Review
- Multi-individual microsatellite identification: A multiple genome approach to microsatellite design (MiMi).Molecular ecology resources · 2019Article
- Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.Scientific reports · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary breast and ovarian cancer is characterized by mutations in METHODS AND
resultsIn this article, we investigated the causes of a false negative capillary sequencing result in
conclusionAssuming that this problem can also occur in any PCR-based method that are widely used in diagnostic settings, the clinical report presented here draws attention for one of the limitations of genetic testing in general, for which medical and laboratory communities need to be aware.
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.