3Dmapper: A Command Line Tool For BioBank-scale Mapping Of Variants To Protein Structures

0303 health sciences Proteins Genomics Genòmica Applications Note 03 medical and health sciences Genetic coding variants Simulació per ordinador Àrees temàtiques de la UPC::Informàtica::Aplicacions de la informàtica::Bioinformàtica Mutations in protein-coding regions 3Dmapper Software Biological Specimen Banks
DOI: 10.1101/2023.09.01.555502 Publication Date: 2023-09-05T08:20:10Z
ABSTRACT
ABSTRACTThe interpretation of genomic data is crucial to understand the molecular mechanisms of biological processes. Protein structures play a vital role in facilitating this interpretation by providing functional context to genetic coding variants. However, mapping genes to proteins is a tedious and error-prone task due to inconsistencies in data formats. Over the past two decades, numerous tools and databases have been developed to automatically map annotated positions and variants to protein structures. However, most of these tools are web-based and not well-suited for large-scale genomic data analysis. To address this issue, we introduce 3Dmapper, a standalone command-line tool developed in Python and R. It systematically maps annotated protein positions and variants to protein structures, providing a solution that is both efficient and reliable. 3Dmapper is freely available on GitHub athttps://github.com/vicruiser/3Dmapper.
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