Author

Alejandro Metke

Commonwealth Scientific and Industrial Research Organisation

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alessandra BrayiD· 1 shared Alison G. ComptoniD· 1 shared Ann E. FrazieriD· 1 shared AnneMarie E. WelchiD· 1 shared Belinda ChongiD· 1 shared Carolyn EllawayiD· 1 shared Cas SimonsiD· 1 shared Christine Wools· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alessandra BrayORCID

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1 paper

Recent·Most cited

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

Rocío Rius, Alison G. Compton, Naomi L. Baker, Shanti Balasubramaniam, Stephanie Best, Kaustuv Bhattacharya, Kirsten Boggs, Tiffany F. Boughtwood, Jeffrey Braithwaite, Drago Bratkovic, Alessandra Bray, Marie‐Jo Brion, Jo Burke, Sarah Casauria, Belinda Chong, , 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.

Genetics in Medicine · Sep 19, 2024Peer-reviewedGenetic & Genomic Medicine