Author

Katherine Noble

ARUP Institute for Clinical and Experimental PathologyORCID 0000-0002-2458-7286Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1

Signature Assays, Organisms & Methods

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Approach:deep learning· 1 Organism:human· 1 Approach:transformer / foundation model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ashini Bolia· 1 shared Brendan D. O’FalloniD· 1 shared Eric Frederickson· 1 shared Hunter D. Best· 1 shared Jacob Durtschi· 1 shared Joshua F. Coleman· 1 shared Luobin Yang· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperBioinformatics

Ashini Bolia

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1 paper

Recent·Most cited

Jovian enables direct inference of germline haplotypes from short reads via sequence-to-sequence modeling

Brendan D. O’Fallon, Ashini Bolia, Jacob Durtschi, Luobin Yang, Eric Frederickson, Katherine Noble, Joshua F. Coleman, Hunter D. Best

Jovian uses a deep learning model to directly infer germline haplotypes from short reads, achieving high sensitivity and precision in variant detection.

bioRxiv · Sep 12, 2022 · PreprintBioinformatics