Author

Vanessa Cristina Jacovas

Baylor College of MedicineORCID 0000-0002-3611-4494Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:DNA methylation· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Bo YuaniD· 2 shared Jennifer M. PuckiD· 2 shared Katharina V. Schulze· 2 shared Megan PiazzaiD· 2 shared Nicolai S. C. van OersiD· 2 shared Rajarshi GhoshiD· 2 shared Shiloh MartiniD· 2 shared Svetlana Vakkilainen· 2 shared

Activity by Year

2025-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bo YuanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 3, 2026

Variant Classification of a Non-Protein Coding Gene: ACMG/AMP Specifications for RMRP from the Clinical Genome Resource Severe Combined Immunodeficiency Disease Variant Curation Expert Panel

Vanessa Cristina Jacovas, Yasemin Demirkol, Alejandro Nieto-Patlan…·Ivan K Chinn

This paper adapts ACMG/AMP variant classification criteria for the non-protein-coding gene RMRP, resulting in a framework for classifying variants in cartilage-hair hypoplasia.

DOI 10.64898/2026.11.02.26366506

humanDNA methylation

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedOct 15, 2025

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2

Vanessa Cristina Jacovas, Michelle Zelnick, Shannon M. McNulty…·Xinrui Shi

The paper develops SCID-specific variant classification guidelines by adapting ACMG/AMP criteria for seven SCID-related genes using expert review and a pilot variant set.

9 citationstop 3%

humanstatistical model

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