Author

Andrew B. Folta

University of WashingtonORCID 0009-0004-0395-8430Unclaimed 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:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1

Frequent Co-Authors

Andrew B. StergachisiD· 2 shared Abbye E. McEweniD· 1 shared Adriana Estela Sedeño-CortésiD· 1 shared Aimee Allworth· 1 shared Alan F. RubiniD· 1 shared Alden HuangiD· 1 shared Alyna KhaniD· 1 shared Ashley M. SnyderiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrew B. StergachisORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJan 25, 2025

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation

Min Seon Park, Runjun D. Kumar, Cristian Ovadiuc…·Andrew B. Stergachis

This study identifies barriers to using functional data in clinical variant interpretation and highlights the need for better access and standardized interpretation guidelines.

1 citation

statistical modelbenchmarking

𝕏 PostBluesky

GeneticsNeurology GeneticsPeer-reviewedAug 8, 2023

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine…·Fuki Marie Hisama

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.

6 citations

humanlong-read sequencing

𝕏 PostBluesky