Author

Soma Das

Brigham and Women's HospitalORCID 0000-0002-7146-7869Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Anna SzutoiD· 1 shared Brent L. FogeliD· 1 shared Brittany C. ThomasiD· 1 shared Carol SaundersiD· 1 shared Christian R. MarshalliD· 1 shared Christian S. Neckelmann· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amanda Thomas‐WilsonORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 30, 2023

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya…·Stephen Francis Kingsmore

The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.

138 citationstop 1%

whole-exome sequencingwhole-genome sequencing

𝕏 PostBluesky

GeneticsNeurology GeneticsPeer-reviewedMay 20, 2020

Prevalence of RFC1-Mediated Spinocerebellar Ataxia in a United States Ataxia Cohort

Dona Aboud Syriani, Darice Y. Wong, Sameer Andani…·Brent L. Fogel

The paper evaluates the prevalence of RFC1 and DAB1 repeat expansions in an undiagnosed ataxia cohort, finding biallelic RFC1 expansions in 2.7% of patients.

54 citationstop 4%

humanexperimental assay

𝕏 PostBluesky