Author

Cas LeMaster

Children's Mercy HospitalORCID 0000-0001-7319-0237Unclaimed 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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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Assay:GWAS summary statistics· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Craig SmailiD· 2 shared Tomi PastineniD· 2 shared Warren CheungiD· 2 shared Adrienne M. StilpiD· 1 shared Ali ShojaieiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared Ben HeavneriD· 1 shared Ben WeisburdiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenomics

Craig SmailORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintMay 19, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

Ben Heavner, Marsha M. Wheeler, Jesse D. Bengtsson…·Jessica X. Chong

The paper introduces a data model and dataset for rare disease research, enabling interoperable multi-omic data integration across clinical sites.

1 citation

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintMar 15, 2024

Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores

Cas LeMaster, Carl Schwendinger-Schreck, Bing Ge…·Craig Smail

The paper uses long-read whole genome sequencing and polygenic scores to identify structural variants linked to rare diseases and prioritize candidate genes for functional validation.

DOI 10.1101/2024.03.15.24304216

humanwhole-genome sequencing

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