Author

Karl Ng

The University of SydneyORCID 0000-0001-7973-3773Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:long-read sequencing· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Hasindu GamaarachchiiD· 2 shared Igor StevanovskiiD· 2 shared Ira W. DevesoniD· 2 shared Kishore Raj KumariD· 2 shared Marina L. KennersoniD· 2 shared Michel C. TchaniD· 2 shared Sanjog R. ChintalaphaniiD· 2 shared Victor S.C. FungiD· 2 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Hasindu GamaarachchiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineAnnals of Clinical and Translational NeurologyPeer-reviewedFeb 25, 2025

Targeted long-read sequencing as a single assay improves diagnosis of spastic-ataxia disorders

Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow…·Kishore Raj Kumar

This paper demonstrates that targeted long-read sequencing improves genetic diagnosis of spastic-ataxia disorders by identifying causative variants in 41% of undiagnosed cases using a single assay.

13 citationstop 4%

humanlong-read sequencing

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Genetic & Genomic MedicineScience AdvancesPeer-reviewedMar 4, 2022

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi…·Ira W. Deveson

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

190 citationstop 1%

humanlong-read sequencing

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