Author

Anushi Shah

Victor Chang Cardiac Research Institute

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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Bioinformatics· 2 Biochemistry· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-genome sequencing· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Approach:deep learning· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Beni K. Cawood· 1 shared Caroline Janitz· 1 shared Chris HaywardiD· 1 shared Deborah Packham· 1 shared Dilmi Perera· 1 shared Djordje DjordjevićiD· 1 shared Eddie IpiD· 1 shared Eleni GiannoulatouiD· 1 shared

Activity by Year

2018-2025 · peak 1/yr

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10 top collaborators · 14 mutual co-author links

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1 shared paperBioinformatics

Beni K. Cawood

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3 papers

Recent·Most cited

BioinformaticsBriefings in BioinformaticsPeer-reviewedNov 1, 2025

Systematic evaluation of de novo mutation calling tools using whole genome sequencing data

Anushi Shah, Steven Monger, Michael Troup…·Eleni Giannoulatou

This study evaluates five de novo mutation calling tools on real and simulated whole genome sequencing trio data, finding low concordance and tool-specific performance.

DOI 10.1093/bib/bbaf543

humanwhole-genome sequencing

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BioinformaticsBiophysical ReviewsPeer-reviewedJan 21, 2019

CardiacProfileR: An R package for extraction and visualisation of heart rate profiles from wearable fitness trackers

Djordje Djordjević, Beni K. Cawood, Sabrina K. Rispin…·Joshua W. K. Ho

CardiacProfileR extracts and visualizes heart rate profiles from wearable fitness trackers to assess cardiovascular health.

4 citations

humanexperimental assay

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BiochemistrybioRxivPreprintJan 16, 2018

In search of non-coding driver mutations by deep sequencing of regulatory elements in colorectal cancer

Rebecca C Poulos, Dilmi Perera, Deborah Packham…·Jason WH Wong

This study uses targeted capture sequencing to identify non-coding driver mutations in colorectal cancer, finding no clear driver variants in a cohort of 95 samples.

DOI 10.1101/249300

humanwhole-genome sequencing

𝕏 PostBluesky