Author

Greg Smith

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

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 2 Organism:human· 2 Approach:deep learning· 1 Research Focus:differential expression· 1 Assay:GWAS summary statistics· 1 Approach:machine learning (classical)· 1 Approach:statistical model· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alex Bloemendal· 2 shared Cas SimonsiD· 2 shared Christina Anne Austin-TseiD· 2 shared Daniel G. MacArthuriD· 2 shared Heidi L. RehmiD· 2 shared Jeremiah D. WanderiD· 2 shared Lynn S. PaisiD· 2 shared Samantha J. BryeniD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersGenomics

Alex Bloemendal

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

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

Matthew J. Welland, K. D. Ahlquist, Paul De Fazio, Christina Anne Austin-Tse, Lynn S. Pais, Laura Wedd, Samantha J. Bryen, Rocío Rius, Michael Franklin, Caitlin Morrison, Giles Hall, Laura Doyle Gauthier, Alex Bloemendal, David I. Francis, Andrew John Mallett, , Zornitza Stark

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

medRxiv · May 19, 2025 · PreprintGenetic & Genomic Medicine