ReviewJournal of molecular biology2013
Towards precision medicine: advances in computational approaches for the analysis of human variants.
Review in Journal of molecular biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
70 citing papers in PubMed.
- Structure-Based Network Analysis of AlphaFold Structure Predictions Identifies Putative Causative Variants of Inherited Retinal Disease.Investigative ophthalmology & visual science · 2026Article
- Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2026Article
- Comparison of missing data handling methods for variant pathogenicity predictors.NAR genomics and bioinformatics · 2025Article
- Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.Molecular biology reports · 2025Article
- Translating pharmacogenomic sequencing data into drug response predictions-How to interpret variants of unknown significance.British journal of clinical pharmacology · 2025Review
- Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.Scientific reports · 2024Article
- Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease.NPJ genomic medicine · 2024Article
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.Genome biology · 2024Article
- mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants.Genomics, proteomics & bioinformatics · 2023Article
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.American journal of human genetics · 2022Article
- A paradigm shift in pharmacogenomics: From candidate polymorphisms to comprehensive sequencing.Basic & clinical pharmacology & toxicology · 2022Review
- Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused byHGG advances · 2022Article
- Review
- How Functional Genomics Can Keep Pace With VUS Identification.Frontiers in cardiovascular medicine · 2022Review
- Predicting deleterious missense genetic variants via integrative supervised nonnegative matrix tri-factorization.Scientific reports · 2021Article
- Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.NPJ genomic medicine · 2021Article
- Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.Science advances · 2021Article
- Systematic evaluation of the effect of polyadenylation signal variants on the expression of disease-associated genes.Genome research · 2021Article
- Identification andFrontiers in cell and developmental biology · 2021Article
- Low Diversity of Human Variation Despite Mostly Mild Functional Impact of De Novo Variants.Frontiers in molecular biosciences · 2021Article
10 more citing papers are in PubMed but not listed here.
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
Abstract
Variations and similarities in our individual genomes are part of our history, our heritage, and our identity. Some human genomic variants are associated with common traits such as hair and eye color, while others are associated with susceptibility to disease or response to drug treatment. Identifying the human variations producing clinically relevant phenotypic changes is critical for providing accurate and personalized diagnosis, prognosis, and treatment for diseases. Furthermore, a better understanding of the molecular underpinning of disease can lead to development of new drug targets for precision medicine. Several resources have been designed for collecting and storing human genomic variations in highly structured, easily accessible databases. Unfortunately, a vast amount of information about these genetic variants and their functional and phenotypic associations is currently buried in the literature, only accessible by manual curation or sophisticated text text-mining technology to extract the relevant information. In addition, the low cost of sequencing technologies coupled with increasing computational power has enabled the development of numerous computational methodologies to predict the pathogenicity of human variants. This review provides a detailed comparison of current human variant resources, including HGMD, OMIM, ClinVar, and UniProt/Swiss-Prot, followed by an overview of the computational methods and techniques used to leverage the available data to predict novel deleterious variants. We expect these resources and tools to become the foundation for understanding the molecular details of genomic variants leading to disease, which in turn will enable the promise of precision medicine.
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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 OpenQuestion graph.