Author

Vaishnavi Nathan

QIMR Berghofer Medical Research InstituteORCID 0000-0001-7201-6819Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abigail Dennis· 1 shared Aideen M McInerney-LeoiD· 1 shared Alexandra MartinsiD· 1 shared Álvaro N.A. MonteiroiD· 1 shared Amanda B. SpurdleiD· 1 shared Amanda Ewart TolandiD· 1 shared Anjali K. HendersiD· 1 shared Anne Elizabeth CustiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 13 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail Dennis

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 18, 2026

Large distant deletion disrupts CDKN2A enhancer and predisposes to melanoma

Peter A. Johansson, Kelly M. Brooks, Jane M. Palmer…·Antonia L. Pritchard

The paper identifies a large distant deletion in DMRTA1 upstream of CDKN2A that predisposes to melanoma by disrupting regulatory sequences and reducing p16 expression.

DOI 10.64898/2026.05.07.26352537

humanwhole-genome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJun 26, 2025

Being proactive: A qualitative study of South Asian Australians perspectives of cardiovascular disease and genomic testing

Emily DeBortoli, Vaishnavi Nathan, Heena G Akbar…·Tatiane Yanes

This study explores South Asian Australians' health beliefs about cardiovascular disease and genomic testing, finding positive attitudes toward genomic testing but concerns about effectiveness and access.

DOI 10.1101/2025.06.26.25330306

humanstatistical model

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Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedAug 13, 2024

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

Michael T. Parsons, Miguel de la Hoya, Marcy E. Richardson…·Amanda B. Spurdle

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.

104 citationstop 1%

humanDNA methylation

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