Author

Jeremiah D. Wander

Microsoft (United States)ORCID 0000-0003-4125-8983Unclaimed ORCID profile · follow to get notified of new preprints

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 Greg Smith· 2 shared Heidi L. RehmiD· 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

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2 papers

Recent·Most cited

GenomicsGenetics in MedicinePeer-reviewedMay 27, 2026

The Evidence Aggregator: AI reasoning applied to rare disease diagnostics

Hope Twede, Lynn S. Pais, Samantha J. Bryen…·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.

4 citations

humanGWAS summary statistics

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintMay 19, 2025

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

Matthew J. Welland, K. D. Ahlquist, Paul De Fazio…·Zornitza Stark

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

11 citations

humanwhole-exome sequencing

𝕏 PostBluesky