MobiDetails: online DNA variants interpretation
- 7 November 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 29 (2), 356-360
- https://doi.org/10.1038/s41431-020-00755-z
Abstract
MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various kinds of predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to various annotations. Accurate interpretation of DNA variants is crucial and can impact the patient care or have familial outcomes (prenatal diagnosis). Its importance will increase in the coming years with the expansion of the personalized medicine. MobiDetails is specifically designed to help with this task. Exonic or intronic substitutions and small insertions/deletions related to more than 18,000 human genes are easily submitted and annotated in real-time. It is a responsive website that can be accessed using mobiles or tablets during medical staff meetings. MobiDetails is based on publicly available resources, does not include any specific data on patients or phenotypes, and is freely available for academic use at https://mobidetails.iurc.montp.inserm.fr/MD/.This publication has 36 references indexed in Scilit:
- In silico prediction of splice-altering single nucleotide variants in the human genomeNucleic Acids Research, 2014
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov ModelsHuman Mutation, 2012
- Annotation of functional variation in personal genomes using RegulomeDBGenome Research, 2012
- Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainHuman Mutation, 2012
- LOVD v.2.0: the next generation in gene variant databasesHuman Mutation, 2011
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerHuman Mutation, 2007
- Predicting the Effects of Amino Acid Substitutions on Protein FunctionAnnual Review of Genomics and Human Genetics, 2006
- Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing SignalsJournal of Computational Biology, 2004
- dbSNP: the NCBI database of genetic variationNucleic Acids Research, 2001