Author

Christine Wools

The Royal Melbourne Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Himanshu GoeliD· 2 shared Martin Bruce DelatyckiiD· 2 shared Mathew WallisiD· 2 shared Abhishek Malhotra· 1 shared Aleena Eldo· 1 shared Alejandro Metke· 1 shared Alessandra BrayiD· 1 shared Alison G. ComptoniD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Himanshu GoelORCID

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2 papers

Recent·Most cited

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

Rocío Rius, Alison G. Compton, Naomi L. Baker, Shanti Balasubramaniam, Stephanie Best, Kaustuv Bhattacharya, Kirsten Boggs, Tiffany F. Boughtwood, Jeffrey Braithwaite, Drago Bratkovic, Alessandra Bray, Marie‐Jo Brion, Jo Burke, Sarah Casauria, Belinda Chong, , David Ross Thorburn

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

Genetics in Medicine · Sep 19, 2024Peer-reviewedGenetic & Genomic Medicine

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom Rafehi, Liam G. Fearnley, Justin L. Read, Penny Snell, Kayli C. Davies, Liam W. Scott, Greta Gillies, Genevieve C. Thompson, Tess A. Field, Aleena Eldo, Simon Bodek, Ernest Gerard Butler, Luke Chen, John Drago, Himanshu Goel, , Paul J. Lockhart

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

medRxiv · Jul 8, 2024 · PreprintGenetic & Genomic Medicine