DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants

Saikia, B. J.; Gaharwar, U.; Poojary, M.; Mhaske, A.; Paul, S.; Kumar, M.; Pandhare, K.; Sharma, S.; Rophina, M.; Rastogi, S.; Karal, M.; Scaria, V.; BK, B.

doi:10.1101/2023.10.31.564874

bioRxiv · 10.1101/2023.10.31.564874

DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants

Saikia, B. J.·Gaharwar, U.·Poojary, M.·Mhaske, A.·Paul, S.·Kumar, M.·Pandhare, K.·Sharma, S.·Rophina, M.·Rastogi, S.·Karal, M.·Scaria, V.·BK, B.

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Abstract

PurposeIn recent years, the advent of high throughput sequencing techniques has led to the identification of a number of genetic variants across different genes that are associated with movement disorders. However, the under-appreciation of the variant spectrum in movement disorders and the lack of consolidated and systematic evidence-based annotation of these variants has long undermined the true potential of genomic approaches to expedite precision medicine. MethodsWe manually curated the genetic variants from a panel of 118 genes that have been associated with monogenic causes of movement disorders and systematically annotated them according to ACMG & AMP (American College of Medical Genetics and the Association of Molecular Pathologists) guidelines. ResultsData integration after systematic classification of variants according to ACMG & AMP guidelines showed 5118 pathogenic/likely pathogenic variants accounting for 18.03% of the total unique variants being annotated. This data and annotations are available in a comprehensive online compendium DystoGen. ConclusionTo the best of our knowledge, this is the most comprehensive compendium of genetic variants in movement disorders annotated as per the ACMG & AMP guidelines for pathogenicity. The compendium indexes 28377 variants along with a wide array of information including the geographical origin of the variant, global distribution, and population allele frequency. The resource has been made available in the URL https://clingen.igib.res.in/dystogen/.

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Saikia, B. J., Gaharwar, U., Poojary, M., Mhaske, A., Paul, S., Kumar, M., Pandhare, K., Sharma, S., Rophina, M., Rastogi, S., Karal, M., Scaria, V., BK, B.. 2023-11-02. DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants. https://doi.org/10.1101/2023.10.31.564874

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