Author

Emer O’Connor

National Hospital for Neurology and NeurosurgeryORCID 0009-0008-0324-9852Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Andrea CorteseiD· 1 shared Christopher T. SaundersiD· 1 shared Heba MorsyiD· 1 shared Henry HouldeniD· 1 shared Jana VandrovcováiD· 1 shared Michael A. EberleiD· 1 shared Natalia DominikiD· 1 shared Roisin SullivaniD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrea CorteseORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 28, 2024

RFC1 repeat expansion analysis from whole genome sequencing data simplifies screening and increases diagnostic rates

Roisin Sullivan, Sai Chen, Christopher T. Saunders…·Jana Vandrovcová

The paper develops a whole genome sequencing method to detect RFC1 repeat expansions, improving diagnostic rates and simplifying the workflow for cerebellar ataxia diagnosis.

7 citations

humanwhole-genome sequencing

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