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|Alternative name||Database of human MisSense Variants mapped to 3D protein structure|
|Restrictions to use||None|
- Homo sapiens
Publication for Database of human MisSense Variants mapped to 3D protein structure
Phenotypic and molecular analyses of primary lateral sclerosis
[…] ped by the LPGM. This software relies on allele frequency and functional prediction data from multiple publicly available databases, including ClinVar, 1000 Genomes Project, Exome Variant Server, and MSV3D., Pathogenic mutations were confirmed by Sanger sequencing. […]
An association adjusted consensus deleterious scheme to classify homozygous Mis sense mutations for personal genome interpretation
[…] Evidence for association of each SNP or gene with diseases or traits was obtained from public repositories of amino acid polymorphisms (MSV3d, July 2012 release  and SwissVar, accessed December 2012) , from Online Mendelian Inheritance in Man (OMIM) , and from the NHGRI genome wide association studies (GWAS)  catalog. Initiall […]
Knowledge Discovery in Variant Databases Using Inductive Logic Programming
[…] night blindness).,In this paper, we describe a study dedicated to the impact of mutations on protein function in the context of human monogenetic diseases. We extracted background knowledge from the MSV3d annotated mutation database, which integrates a large number of human mutations and phenotypes. We then applied ILP and a clustering analysis to learn a set of rules that can be easily interpret […]
KD4v: comprehensible knowledge discovery system for missense variant
[…] The nsSNPs observed in all human proteins were annotated by the MSV3d pipeline, which automatically performs a sequence/structure/evolution analysis and has been shown to be robust and efficient (,). This includes various parameters which describe, among others, t […]
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