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.
Show 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/.
Matching journals
The top 4 journals account for 50% of the predicted probability mass.
Similar papers in this journal
Similar papers in this journal
- Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases 94%
- REVEL is better at predicting pathogenicity of loss-of-function than gain-of-function variants 94%
- Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay 93%
Similar papers in this journal
- New genes involved in Angelman syndrome-like: expanding the genetic spectrum 94%
- Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease 93%
- Mutation analysis of multiple pilomatricomas in a patient with myotonic dystrophy type 1 suggests a DM1-associated hypermutation phenotype 93%
Similar papers in this journal
- Evaluation of optical genome mapping in clinical genetic testing of facioscapulohumeral muscular dystrophy 95%
- Characterization of the common genetic variation in the Spanish population of Navarre 93%
- Variability in gene expression is associated with incomplete penetrance in inherited eye disorders 92%
Similar papers in this journal
- Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 94%
- Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients 93%
- Cerebral Visual Impairment: genetic diagnoses and phenotypic associations 93%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.