Author

Anna Hackett

Hunter GeneticsORCID 0000-0002-8032-7315Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

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 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

David J. SzmulewicziD· 2 shared Greta Gillies· 2 shared Haloom RafehiiD· 2 shared Kate PopeiD· 2 shared Martin Bruce DelatyckiiD· 2 shared Melanie BahloiD· 2 shared Paul J. LockhartiD· 2 shared Abhishek Malhotra· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

David J. SzmulewiczORCID

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2 papers

Recent·Most cited

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

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett, Nara L. M. Sobreira, Kate Pope, Katherine R. Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A. Eberle, María García Barcina, David P. Breen, Andrew Martin Chancellor, Phillip D. Cremer, Martin Bruce Delatycki, , Paul J. Lockhart

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

The American Journal of Human Genetics · Jun 20, 2019Peer-reviewedGenetics