ReviewFrontiers in genetics2022
Insights on variant analysis
Review in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 2 of them syntheses that pooled it.
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
58 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetic polymorphisms and platinum-induced hematological toxicity: a systematic review.Frontiers in pharmacology · 2024Pooled it
- Genetic Variants Associated With Response to Platinum-Based Chemotherapy in Non-Small Cell Lung Cancer Patients: A Field Synopsis and Meta-Analysis.British journal of biomedical science · 2024Pooled it
- Resolving diagnostic uncertainty in rare MPL and CALR variants: A practical framework for the haematology clinic.British journal of haematology · 2026Article
- From conservation scores to language models: a feature engineering perspective on machine learning for genetic variant interpretation.Briefings in bioinformatics · 2026Review
- Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.Journal of medical genetics · 2026Article
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
- <italic>MKRN3</italic> Variants in Central Precocious Puberty as an Example of the Complexity to Classify Missense Variants in Imprinted Genes as Pathogenic.Hormone research in paediatrics · 2026Article
- Interpreting cancer genetics through a two-step "evolutionary cascade hypothesis": bridging neutral and selective perspectives.Journal of translational medicine · 2026Review
- Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Thrombosis and haemostasis · 2026Article
- Integrated Cross-Platform Analysis Reveals Candidate Variants and Linkage Disequilibrium-Defined Loci Associated with Osteoporosis in Korean Postmenopausal Women.Diagnostics (Basel, Switzerland) · 2026Article
- The expanding role of artificial intelligence in personalised medicine: from innovation to individualized care.Frontiers in medicine · 2026Review
- Case Report: Association of a rare single nucleotide variant in the KCNH2 gene with drug-induced QT prolongation.Frontiers in genetics · 2026Article
- A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II.Journal of enzyme inhibition and medicinal chemistry · 2025Article
- Before sudden death can be attributed to bilateral pneumothorax due to a COL3A1 mutation, its pathogenicity must be proven.Forensic science, medicine, and pathology · 2025Article
- Exploring genome, transcriptome, and microbiome interactions related to feed efficiency and methane emissions in Bos indicus through multi-omics network analysis.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Predictive Analysis and Validation of Critical Missense SNPs of theInternational journal of molecular sciences · 2025Review
- Expanding the utility of variant effect predictions with phenotype-specific models.Nature communications · 2025Article
- Genetic diagnosis of Jordanian patients with glycogen storage diseases.Orphanet journal of rare diseases · 2025Article
- A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.JAMA network open · 2025Article
- Genomic insights into autosomal recessive epilepsy: novel pathogenic variants in ITPA and CLN5 identified in consanguineous families.Molecular biology reports · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molecular biology is currently a fast-advancing science. Sequencing techniques are getting cheaper, but the interpretation of genetic variants requires expertise and computational power, therefore is still a challenge. Next-generation sequencing releases thousands of variants and to classify them, researchers propose protocols with several parameters. Here we present a review of several
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.