Author

Pamela Ajuyah

Broad InstituteORCID 0000-0002-5529-1461Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Research Focus:database / resource· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Ada HamoshiD· 1 shared Aditi Chawla· 1 shared Ai Ling KohiD· 1 shared Akanchha KesariiD· 1 shared Akanksha SenapatiiD· 1 shared Alicia B. ByrneiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ada HamoshORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 6, 2026

criTRia: A Classification System and Evidence Criteria for Tandem Repeat Locus-Disease Relationships

Macayla Ann Weiner, Laurel Hiatt, Pamela Ajuyah…·Harriet Dashnow

The paper introduces criTRia, a framework to evaluate TR locus-disease relationships, curating 65 loci and identifying inconsistencies in existing gene-level classifications.

DOI 10.64898/2026.07.04.26357279

statistical modeldatabase / resource

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GenomicsbioRxivPreprintJun 25, 2025

Expanding the utility of transcriptome analysis for mutation detection in high-risk childhood precision oncology

Chelsea Mayoh, Paulette Barahona, Angela Lin…·Mark J. Cowley

This paper shows RNA-seq can detect most mutations found by WGS in pediatric tumors and provides additional insights into their pathogenicity.

DOI 10.1101/2025.06.25.661445

humanbulk RNA-seq

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Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

1 citation

humanstatistical model

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