Author

Austin G. Diamond

Western General HospitalORCID 0000-0002-9615-229XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:benchmark study· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alison M. MeynertiD· 1 shared Alison Ross· 1 shared Alistair T. PagnamentaiD· 1 shared Anne Lampe· 1 shared Anthony McGuiganiD· 1 shared Caitlin Newman· 1 shared Christelle Robert· 1 shared David U. Baty· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alison M. MeynertORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedAug 5, 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project

Prasun Dutta, Alistair T. Pagnamenta, Christelle Robert…·Timothy J. Aitman

This study uses long-read sequencing to identify pathogenic structural variants in undiagnosed rare disease families, increasing diagnostic yield in three families.

1 citation

humanwhole-genome sequencing

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