Author

Jeremy P. Segal

University of ChicagoORCID 0009-0006-8707-7140Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

A. Craig MackinnoniD· 1 shared Ahmet SaçaniD· 1 shared Akshay Chitturi· 1 shared ANDREAS W. SCHREIBERiD· 1 shared Anna L BrowniD· 1 shared Ashkan BigdeliiD· 1 shared Chase Rushton· 1 shared Christopher Norman HahniD· 1 shared

Activity by Year

2021-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenomics

A. Craig MackinnonORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintApr 18, 2025

Azurify integrates cancer genomics with machine learning to classify the clinical significance of somatic variants

Ashkan Bigdeli, Darshan Shimoga Chandrashekar, Akshay Chitturi…·Robert B. Faryabi

Azurify classifies somatic variants' clinical significance using machine learning and integrates with clinical data, achieving high accuracy in external validation.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintNov 17, 2021

Clonal hematopoiesis in individuals with ANKRD26 or ETV6 germline mutations

Michael William Drazer, Claire C. Homan, Kai Yu…·Lucy A. Godley

This study examines clonal hematopoiesis risk in individuals with germline ANKRD26 or ETV6 mutations, finding that ANKRD26 carriers have elevated risk while ETV6 carriers do not.

DOI 10.1101/2021.11.17.468983

humanwhole-exome sequencing

𝕏 PostBluesky