ProtVar: mapping and contextualizing human missense variation

ProtVar: mapping and contextualizing human missense variation

2024 | James D. Stephenson, Prabhat Totoo, David F. Burke, Jürgen Jänes, Pedro Beltrao, Maria J. Martin
ProtVar is a web-based tool designed to facilitate the contextualization and interpretation of human missense variations. It addresses the challenges of integrating and mapping genomic, coding, protein, and structural data, which are increasingly complex due to the growing volume and diversity of variant data and annotations. ProtVar pre-calculates all possible variants in the human proteome, enabling near-instantaneous mapping between different data types. It combines data from various resources, including genomic, protein sequence, functional annotations, and structural insights, to better understand the likely effects of missense variations. The tool is user-friendly, offering intuitive navigation and downloadable data, and can be accessed programmatically via an API. ProtVar supports multiple input formats, including genomic, cDNA, protein, and variant IDs, and provides detailed functional annotations, population observations, and structural annotations to help researchers interpret variant effects. The tool is freely available and aims to be a comprehensive resource for researchers in the field of genetic variation interpretation.ProtVar is a web-based tool designed to facilitate the contextualization and interpretation of human missense variations. It addresses the challenges of integrating and mapping genomic, coding, protein, and structural data, which are increasingly complex due to the growing volume and diversity of variant data and annotations. ProtVar pre-calculates all possible variants in the human proteome, enabling near-instantaneous mapping between different data types. It combines data from various resources, including genomic, protein sequence, functional annotations, and structural insights, to better understand the likely effects of missense variations. The tool is user-friendly, offering intuitive navigation and downloadable data, and can be accessed programmatically via an API. ProtVar supports multiple input formats, including genomic, cDNA, protein, and variant IDs, and provides detailed functional annotations, population observations, and structural annotations to help researchers interpret variant effects. The tool is freely available and aims to be a comprehensive resource for researchers in the field of genetic variation interpretation.
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[slides and audio] ProtVar%3A mapping and contextualizing human missense variation