Author

Hunter D. Best

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

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Bioinformatics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 4 Assay:whole-genome sequencing· 4 Organism:human· 3 Approach:deep learning· 2 Approach:statistical model· 2 Approach:transformer / foundation model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Brendan D. O’FalloniD· 3 shared Jacob Durtschi· 3 shared Ashini Bolia· 2 shared Luobin Yang· 2 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Anatasia Kellogg· 1 shared Anna SzutoiD· 1 shared

Activity by Year

2022-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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3 shared papersBioinformatics

Brendan D. O’FallonORCID

Mutual co-authors in cluster

Author profile →

4 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

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

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter D. Best, Rhonda C. Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Y. Chen, Jacob Clifford, Ana S.A. Cohen, Laura Kathleen Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, , 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.

Genetics in Medicine · Jul 30, 2023Peer-reviewedGenetic & Genomic Medicine

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