3Dmapper: a command line tool for BioBank-scale mapping of variants to protein structures

Author:

Ruiz-Serra Victoria12ORCID,Valentini Samuel3,Madroñero Sergi2,Valencia Alfonso14,Porta-Pardo Eduard12ORCID

Affiliation:

1. Barcelona Supercomputing Center (BSC)

2. Josep Carreras Leukaemia Research Institute (IJC) , Badalona 08916, Spain

3. Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento , Trento 38123, Italy

4. Institució Catalana de Recerca Avançada (ICREA)

Abstract

Abstract Motivation The 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. Results To address this issue, we introduce 3Dmapper, a stand-alone 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. Availability and implementation https://github.com/vicruiser/3Dmapper

Funder

La Caixa Junior Leader Fellowship

Spanish Ministry of Science

Publisher

Oxford University Press (OUP)

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