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Brianna St John

Walter and Eliza Hall Institute of Medical Research

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

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Ayush SemwaliD· 1 shared Bruno ReversadeiD· 1 shared Frédérique MagdinieriD· 1 shared James LancasteriD· 1 shared Kathleen ZeglinskiiD· 1 shared Lucinda C. XiaoiD· 1 shared Marnie E. BlewittiD· 1 shared Matthew E. RitchieiD· 1 shared

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Ayush SemwalORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintApr 24, 2025

D4Z4End2End: complete genetic and epigenetic architecture of D4Z4 macrosatellites in FSHD, BAMS and reference cohorts

Lucinda C. Xiao, Ayush Semwal, Brianna St John…·Quentin A. Gouil

This paper develops D4Z4End2End, a workflow using long-read sequencing to characterize D4Z4 macrosatellite genetics and methylation in FSHD, BAMS, and reference cohorts, revealing new variants and methylation patterns.

3 citations

humanwhole-genome sequencing

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