Author

Jacob Durtschi

ARUP Institute for Clinical and Experimental Pathology

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Bioinformatics· 3

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:variant calling· 3 Assay:whole-genome sequencing· 3 Approach:deep learning· 2 Approach:statistical model· 1 Approach:transformer / foundation model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Brendan D. O’FalloniD· 3 shared Hunter D. Best· 3 shared Ashini Bolia· 2 shared Luobin Yang· 2 shared Anatasia Kellogg· 1 shared Devin W. CloseiD· 1 shared Eric D. FredricksoniD· 1 shared Eric Frederickson· 1 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersBioinformatics

Brendan D. O’FallonORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

Generative Haplotype Prediction Outperforms Statistical Methods for Small Variant Detection in NGS Data

Brendan D. O’Fallon, Ashini Bolia, Jacob Durtschi, Luobin Yang, Eric D. Fredrickson, Hunter D. Best

This paper introduces a deep generative model for haplotype prediction in NGS data, showing superior accuracy compared to statistical methods for variant detection.

Bioinformatics · Sep 18, 2024Peer-reviewedBioinformatics

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

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

Brendan D. O’Fallon, Jacob Durtschi, Anatasia Kellogg, Tracey B. Lewis, Devin W. Close, Hunter D. Best

This paper improves CNV detection in NGS data using algorithmic adaptations in an HMM framework, achieving better PPV with similar sensitivity compared to existing tools.

BMC Bioinformatics · Jul 19, 2022Peer-reviewedBioinformatics