Author

Akzam Saidin

Adelaide UniversityORCID 0000-0002-4498-1977Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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

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Leanne M. DibbensiD· 1 shared Michael G. RicosiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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1 shared paperBioinformatics

Leanne M. DibbensORCID

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BioinformaticsbioRxivPreprintAug 21, 2026

IUPAC Consensus References Improve Short-Read Variant Detection in Clinically Challenging Regions: A Stratified Benchmarking Study with BurdenBench

Akzam Saidin, Michael G. Ricos, Leanne M. Dibbens

This study evaluates IUPAC consensus references for improving variant detection in challenging genomic regions using a stratified benchmarking framework called BurdenBench.

DOI 10.64898/2026.08.12.744558

humanwhole-genome sequencing

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