Author

Nadiya Sosonkina

University of Alabama at BirminghamORCID 0009-0006-2901-0861Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Brandon M. WilkiD· 2 shared Camille L. Birch· 2 shared Donna M. BrowniD· 2 shared Elizabeth A. WortheyiD· 2 shared James HoltiD· 2 shared Manavalan GajapathyiD· 2 shared Melissa A. Wilk· 2 shared Undiagnosed Diseases Network· 2 shared

Activity by Year

2019-2019 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersBioinformatics

Brandon M. WilkORCID

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2 papers

Recent·Most cited

BioinformaticsBMC BioinformaticsPeer-reviewedOct 15, 2019

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

Undiagnosed Diseases Network, James Holt, Brandon M. Wilk…·Elizabeth A. Worthey

VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.

19 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintMay 15, 2019

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

James Holt, Camille L. Birch, Donna M. Brown…·Elizabeth A. Worthey

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.

11 citations

humanwhole-genome sequencing

𝕏 PostBluesky