SynthesisFrontiers in genetics2019
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives.
Synthesis in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
What it found
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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.
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Who cites it
56 citing papers in PubMed.
- Association of EBV EBNA1 C-terminal variations with severity of Invasive ductal carcinoma.Molecular biology reports · 2026Article
- Vitamin D Receptor rs731236 Polymorphism Modulates Cancer Cachexia Susceptibility and Overall Survival: A Real-World Study on Context-Dependent Vitamin D Signalling.International journal of molecular sciences · 2026Article
- Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.Journal of human genetics · 2026Article
- CDsyn: A comprehensive database for deleterious human synonymous variation prediction.iScience · 2026Article
- SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.NAR genomics and bioinformatics · 2026Article
- Article
- Whole exon screening of SLC2A4 gene and the association of rs5435 with type 2 diabetes in a Bangladeshi case-control study.Journal, genetic engineering & biotechnology · 2025Article
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.Scientific reports · 2025Article
- Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.Frontiers in oncology · 2025Article
- Structural and functional prediction, evaluation, and validation in the post-sequencing era.Computational and structural biotechnology journal · 2024Review
- 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.Orphanet journal of rare diseases · 2024Article
- Variant Effect Prediction in the Age of Machine Learning.Cold Spring Harbor perspectives in biology · 2024Review
- A second hotspot for pathogenic exon-skipping variants in CDC45.European journal of human genetics : EJHG · 2024Article
- Variant ranking pipeline for complex familial disorders.Scientific reports · 2024Article
- Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis.Genetics and molecular biology · 2024Article
- Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study.BMC medical genomics · 2023Article
- Nonsynonymous Synonymous Variants Demand for a Paradigm Shift in Genetics.Current genomics · 2023Review
- In silico methods for predicting functional synonymous variants.Genome biology · 2023Review
- Association of Interactions between Metabolic 'Caretaker' Genes, p53, MDM2, and Tobacco Use with the Risk of Oral Cancer: A Multifactor Dimensionality Reduction Approach.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases.Genes · 2023Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent advances in high-throughput experimentation have put the exploration of genome sequences at the forefront of precision medicine. In an effort to interpret the sequencing data, numerous computational methods have been developed for evaluating the effects of genome variants. Interestingly, despite the fact that every person has as many synonymous (sSNV) as non-synonymous single nucleotide variants, our ability to predict their effects is limited. The paucity of experimentally tested sSNV effects appears to be the limiting factor in development of such methods. Here, we summarize the details and evaluate the performance of nine existing computational methods capable of predicting sSNV effects. We used a set of
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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 Socratic graph.