ReviewPLoS computational biology2016
Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.
Review in PLoS computational biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed.
- Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.Scientific reports · 2021Trial
- QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning.Human genetics · 2025Article
- Article
- An expanded phenotype centric benchmark of variant prioritisation tools.Human mutation · 2022Article
- Genetic Variants in the Protein S (TH open : companion journal to thrombosis and haemostasis · 2021Article
- Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.International journal of molecular sciences · 2021Article
- Refinement of coding SNPs in the human aryl hydrocarbon receptor gene using ISNPranker: An integrative-SNP ranking web-tool.Computational biology and chemistry · 2021Article
- Comprehensive assessment of TP53 loss of function using multiple combinatorial mutagenesis libraries.Scientific reports · 2020Article
- Problems in variation interpretation guidelines and in their implementation in computational tools.Molecular genetics & genomic medicine · 2020Article
- Variation benchmark datasets: update, criteria, quality and applications.Database : the journal of biological databases and curation · 2020Article
- BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge.Human mutation · 2019Article
- Predicting pathogenicity of missense variants with weakly supervised regression.Human mutation · 2019Article
- High-frequency actionable pathogenic exome variants in an average-risk cohort.Cold Spring Harbor molecular case studies · 2018Article
- Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes.Human genomics · 2018Article
- Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Review
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.American journal of human genetics · 2018Article
- Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.American journal of human genetics · 2018Article
- γ2 GABAFrontiers in cellular neuroscience · 2018Review
- Article
- A phenotype centric benchmark of variant prioritisation tools.NPJ genomic medicine · 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
2 authors.
Funding
Abstract
PubMed holds no abstract for this paper.
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.