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

**Authors:** Victoria Ruiz-Serra, Samuel Valentini, Sergi Madroñero, Alfonso Valencia, Eduard Porta-Pardo

PMC · DOI: 10.1093/bioinformatics/btae171 · Bioinformatics · 2024-04-02

## TL;DR

3Dmapper is a new command-line tool that efficiently maps genetic variants to protein structures, making large-scale genomic analysis easier.

## Contribution

3Dmapper introduces a standalone command-line solution for mapping variants to protein structures at scale.

## Key findings

- 3Dmapper provides an efficient and reliable way to map annotated positions and variants to protein structures.
- The tool is designed for BioBank-scale genomic data analysis and is implemented in Python and R.
- It addresses the limitations of web-based tools by offering a scalable and automated solution.

## Abstract

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.

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.

https://github.com/vicruiser/3Dmapper

## Full-text entities

- **Genes:** RAD51D (RAD51 paralog D) [NCBI Gene 5892] {aka BROVCA4, R51H3, RAD51L3, TRAD}, XRCC2 (X-ray repair cross complementing 2) [NCBI Gene 7516] {aka FANCU, POF17, SPGF50}
- **Diseases:** Mendelian diseases (MESH:D030342), AECC (MESH:D009369)
- **Chemicals:** acid (MESH:D000143)
- **Species:** Homo sapiens (human, species) [taxon 9606], Canis lupus familiaris (dog, subspecies) [taxon 9615]
- **Mutations:** H86N, E97Q
- **Cell lines:** S2 — Drosophila melanogaster (Fruit fly), Spontaneously immortalized cell line (CVCL_Z232)

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## References

26 references — full list in the complete paper: https://tomesphere.com/paper/PMC11018535/full.md

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Source: https://tomesphere.com/paper/PMC11018535