Author

Jacob M. Kelly

HudsonAlpha Institute for Biotechnology

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· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

James HoltiD· 2 shared Alexander Clayton MossiD· 1 shared Amanda Thomas‐WilsoniD· 1 shared Ana S.A. CoheniD· 1 shared Angelina E. Uno-AntonisoniD· 1 shared Anna SzutoiD· 1 shared Arthur Weborg· 1 shared Brandon M. WilkiD· 1 shared

Activity by Year

2019-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

James HoltORCID

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2 papers

Recent·Most cited

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

VarSight: Prioritizing Clinically Reported Variants with Binary Classification Algorithms

Undiagnosed Diseases Network, James Holt, Brandon M. Wilk, Camille L. Birch, Donna M. Brown, Manavalan Gajapathy, Alexander Clayton Moss, Nadiya Sosonkina, Melissa A. Wilk, Julie A. Anderson, Jeremy M. Harris, Jacob M. Kelly, Fariba Shaterferdosian, Angelina E. Uno-Antonison, Arthur Weborg, Elizabeth A. Worthey

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

BMC Bioinformatics · Oct 15, 2019Peer-reviewedBioinformatics