Author

Tiffany F. Boughtwood

Murdoch Children's Research InstituteORCID 0000-0002-9634-3731Unclaimed 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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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Organism:human· 1 Research Focus:software / tool· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Martin Bruce DelatyckiiD· 2 shared Aideen M McInerney-LeoiD· 1 shared Alejandro Metke· 1 shared Alessandra BrayiD· 1 shared Alison G. ComptoniD· 1 shared Andrea BelcheriD· 1 shared Ann E. FrazieriD· 1 shared AnneMarie E. WelchiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Martin Bruce DelatyckiORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedSep 19, 2024

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

Rocío Rius, Alison G. Compton, Naomi L. Baker…·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.

11 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewedSep 20, 2021

A step forward, but still inadequate: Australian health professionals' views on the genetics and life insurance moratorium

Jane M. Tiller, Louise Anne Keogh, Aideen M McInerney-Leo…·Paul A Lacaze

The paper surveys Australian health professionals' views on a genetics and life insurance moratorium, finding most believe it is inadequate and advocate for government legislation.

9 citations

statistical modelbenchmarking

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