ArticleNucleic acids research2012
KD4v: Comprehensible Knowledge Discovery System for Missense Variant.
Article in Nucleic acids research, 2012. 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
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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
9 citing papers in PubMed, 59 citations in OpenAlex.
- In Silico Study of Correlation between Missense Variations ofTurkish journal of haematology : official journal of Turkish Society of Haematology · 2020Article
- Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.Genome medicine · 2017Review
- Article
- MutaCYP: Classification of missense mutations in human cytochromes P450.BMC medical genomics · 2014Article
- 20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.European journal of human genetics : EJHG · 2014Article
- A comprehensive study of small non-frameshift insertions/deletions in proteins and prediction of their phenotypic effects by a machine learning method (KD4i).BMC bioinformatics · 2014Article
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.American journal of human genetics · 2013Article
- Knowledge discovery in variant databases using inductive logic programming.Bioinformatics and biology insights · 2013Article
- The road from next-generation sequencing to personalized medicine.Personalized medicineArticle
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A major challenge in the post-genomic era is a better understanding of how human genetic alterations involved in disease affect the gene products. The KD4v (Comprehensible Knowledge Discovery System for Missense Variant) server allows to characterize and predict the phenotypic effects (deleterious/neutral) of missense variants. The server provides a set of rules learned by Induction Logic Programming (ILP) on a set of missense variants described by conservation, physico-chemical, functional and 3D structure predicates. These rules are interpretable by non-expert humans and are used to accurately predict the deleterious/neutral status of an unknown mutation. The web server is available at http://decrypthon.igbmc.fr/kd4v.
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What Socratic 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 Socratic graph.