Author

Ron Paulsen

Microsoft (United States)

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

Genomics· 2

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:benchmarking· 1 Approach:deep learning· 1 Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Scott SaponasiD· 2 shared Alex Bloemendal· 1 shared Amanda K. HalliD· 1 shared Ashley Mae ConardiD· 1 shared Cas SimonsiD· 1 shared Christina Anne Austin-TseiD· 1 shared Daniel G. MacArthuriD· 1 shared Emily O’HeiriD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 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

2 shared papersGenomics

Scott SaponasORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

Hope Twede, Lynn S. Pais, Samantha J. Bryen, Emily O’Heir, Greg Smith, Ron Paulsen, Christina Anne Austin-Tse, Alex Bloemendal, Cas Simons, Amanda K. Hall, Scott Saponas, Jeremiah D. Wander, Daniel G. MacArthur, Heidi L. Rehm, Ashley Mae Conard

The Evidence Aggregator (EvAgg) uses generative AI to streamline rare disease diagnostics by extracting and summarizing genetic variant and clinical information from literature, improving efficiency and accuracy.

Genetics in Medicine · May 27, 2026Peer-reviewedGenomics

Blended Length Genome Sequencing (blend-seq): Combining Short Reads with Low-Coverage Long Reads to Maximize Variant Discovery

Ricky Magner, Fabio Cunial, Sumit Basu, Ron Paulsen, Scott Saponas, Megan Shand, Niall J. Lennon, Eric Banks

blend-seq improves variant discovery by combining short and low-coverage long reads, enhancing SNP detection and structural variant recall while maintaining precision.

bioRxiv · Nov 1, 2024 · PreprintGenomics