DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants
Bhaskar Jyoti Saikia, Utkarsh Gaharwar, Mukta Poojary, Aditi Mhaske, Sangita Chowdhury Paul, Mukesh Kumar, Srishti Sharma, Kavita Pandhare, Shivanshi Rastogi, Medhavi Karal, Mercy Rophina, Vinod Scaria, Balachandran Krishnamma Binukumar
The paper curates and annotates 5118 pathogenic/likely pathogenic variants from 118 movement disorder-associated genes using ACMG & AMP guidelines, creating a comprehensive online compendium called DystoGen.
bioRxiv · Oct 31, 2023 · PreprintBioinformatics