haqueb2/mave-missense-intra-residue-analysis: v1.0 – MAVE Intra-Residue Correlation Analysis

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Authors: haqueb2
Cited by: 1

Abstract

This release contains scripts and example input files used in: "Determining the intra-residue correlation of missense variant impact using MAVE scores: implications for the ACMG/AMP PM5 criterion for DNA variant classification" (Dai et al., 2026) The repository includes: Scripts for residue-level and variant-level analysis of MAVE missense variants. ACMG-like and modified ACMG scoring pipelines. Visualizations of predictor performance, Grantham distances, and ROC/AUC analyses. Example input files (inputs/) and links to large annotation files (annotations/). Notes: Some folders may be empty but are included for organizational purposes. Large annotation files are not included and must be downloaded separately (see annotations/). This release corresponds to the version used for analyses in the published manuscript.

Publication details

Journal / source
Zenodo (CERN European Organization for Nuclear Research)
Publication date
17 March 2026