Author

Isabelle Bosi

Garvan Institute of Medical ResearchORCID 0000-0001-9313-6692Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Research Focus:cell type annotation· 1 Research Focus:deconvolution· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Assay:long-read sequencing· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Alex William HewittiD· 1 shared Andre L. M. ReisiD· 1 shared Brynn Kevin WainsteiniD· 1 shared Dan SuaniD· 1 shared Etienne Masle‐FarquhariD· 1 shared Gemma Alexandra FigtreeiD· 1 shared Igor StevanovskiiD· 1 shared Ira W. DevesoniD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetic & Genomic Medicine

Alex William HewittORCID

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMay 8, 2025

Combined genomic and phenotypic classification of inherited and acquired genetic disease with long-read sequencing

Yves Fontaine, Shreegowri Aradhya, Shannon Ji…·Owen M. Siggs

This paper uses long-read sequencing to simultaneously detect genetic variation and methylation, enabling phenotypic classification of inherited and acquired genetic diseases.

DOI 10.1101/2025.05.08.25327265

humanlong-read sequencing

𝕏 PostBluesky