Author

Helen C. O’Neill

University College LondonORCID 0000-0003-3481-3459Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Almira Moosa· 1 shared Kimberley M.B. Tirrell· 1 shared Meeladah Ghani· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

3 top collaborators · 1 mutual co-author link

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1 shared paperGenetic & Genomic Medicine

Almira Moosa

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 17, 2023

Comparing the diagnostic and clinical utility of WGS and WES with standard genetic testing (SGT) in children with suspected genetic diseases: A systematic review and meta-analysis

Kimberley M.B. Tirrell, Helen C. O’Neill

This study compares the diagnostic and clinical utility of whole-genome sequencing (WGS), whole-exome sequencing (WES), and standard genetic testing (SGT) in children with suspected genetic diseases, finding WGS and WES to be more effective than SGT.

4 citations

humanwhole-genome sequencing

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Genetic & Genomic MedicineJournal of Clinical PathologyPeer-reviewedSep 16, 2022

Genetic Associations with Polycystic Ovary Syndrome: The Role of The Mitochondrial Genome; A Systematic Review and Meta-analysis

Almira Moosa, Meeladah Ghani, Helen C. O’Neill

This study reviews and meta-analyzes genetic associations between the mitochondrial genome and polycystic ovary syndrome, finding specific mtDNA variants and copy number differences.

16 citations

humanGWAS summary statistics

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