Author

Aditi Mhaske

Institute of Genomics and Integrative Biology

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Balachandran Krishnamma BinukumariD· 1 shared Bhaskar Jyoti SaikiaiD· 1 shared Kavita Pandhare· 1 shared Medhavi Karal· 1 shared Mercy RophinaiD· 1 shared Mukesh KumariD· 1 shared Mukta Poojary· 1 shared Sangita Chowdhury PauliD· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperBioinformatics

Balachandran Krishnamma BinukumarORCID

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1 paper

Recent·Most cited

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