Author

Joseph Copty

Garvan Institute of Medical ResearchORCID 0000-0002-8602-119XUnclaimed 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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Organism:human· 3 Approach:statistical model· 3 Research Focus:gene regulatory network inference· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Shyamsundar RavishankariD· 3 shared Carolyn M. SueiD· 2 shared Chenglong YuiD· 2 shared Christina LiangiD· 2 shared Eloise C. WatsoniD· 2 shared Gordon QianiD· 2 shared Matthew HobbsiD· 2 shared Paul A LacazeiD· 2 shared

Activity by Year

2024-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Shyamsundar RavishankarORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 29, 2026

Pathogenic mitochondrial genome variation, heteroplasmy thresholding and mitochondrial constraint measures in a healthy older cohort

Eloise C. Watson, Gordon Qian, Shyamsundar Ravishankar…·Carolyn M. Sue

The paper analyzes mitochondrial DNA variation in a healthy older cohort, identifies pathogenic variants, and proposes improved heteroplasmy thresholding to reduce false positives.

DOI 10.64898/2026.06.24.26356403

humanwhole-genome sequencing

Genetic & Genomic MedicinemedRxivPreprintJun 29, 2026

Mitochondrial Disease variation in healthy older adults: a genotype-phenotype assessment linking pathogenic variants and mitochondrial constraint

Eloise C. Watson, Gordon Qian, Shyamsundar Ravishankar…·Carolyn M. Sue

The paper assesses mitochondrial disease variants and genome constraint in healthy older adults, finding no significant phenotype associations but suggesting constraint measures may relate to aging biomarkers.

DOI 10.64898/2026.06.24.26356498

humanwhole-genome sequencing

GenomicsbioRxivPreprintMar 3, 2024

Deep sequencing of proteotoxicity modifier genes uncovers a Presenilin-2/beta-amyloid-actin genetic risk module shared among alpha-synucleinopathies

Sumaiya Nazeen, Xinyuan Wang, Dina Zielinski…·Vikram Khurana

The paper identifies a shared genetic risk module involving PSEN2 and actin regulation across alpha-synucleinopathies, linking them to Alzheimer's disease mechanisms.

4 citations

humanwhole-exome sequencing