Author

Anne Ronan

University of Newcastle AustraliaORCID 0000-0001-5799-0293Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abhishek Malhotra· 1 shared Aleena Eldo· 1 shared Alexandra ButtersiD· 1 shared Alicia B. ByrneiD· 1 shared Andrew P. HannafordiD· 1 shared Anna HackettiD· 1 shared Chloe Stutterd· 1 shared Christine Wools· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abhishek Malhotra

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 8, 2024

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…·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.

1 citation

humanwhole-genome sequencing

Genetic & Genomic MedicinemedRxivPreprintFeb 8, 2024

A rare splice-site variant in cardiac troponin-T (TNNT2): The need for ancestral diversity in genomic reference datasets

Alexandra Butters, Kate L. Thomson, Francesca Harrington…·Jodie Ingles

The paper reports a rare splice-site variant in TNNT2 found in Oceanian ancestry individuals, highlighting the need for diverse genomic datasets to avoid misclassification of variants.

3 citations

humanwhole-exome sequencing