Author

Steven Monger

UNSW SydneyORCID 0000-0003-4209-3092Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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

Frequent Co-Authors

Eleni GiannoulatouiD· 2 shared Anushi Shah· 1 shared Congenital Heart Disease Synergy Study Group· 1 shared David Scott WinlawiD· 1 shared Debjani DasiD· 1 shared Eddie IpiD· 1 shared Edwin Philip KirkiD· 1 shared Gary F. SholleriD· 1 shared

Activity by Year

2024-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersBioinformatics

Eleni GiannoulatouORCID

Mutual co-authors in cluster

Author profile →

2 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

𝕏 PostBluesky

GenomicsBioinformatics AdvancesPeer-reviewedDec 26, 2024

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

Mikhail Gudkov, Loïc Thibaut, Steven Monger…·Samantha J. Lain

This study benchmarks variant pathogenicity predictors using population genetics data, finding CADD and REVEL as the best performers and highlighting biases in ClinVar-based training.

3 citations

whole-genome sequencingstatistical model

𝕏 PostBluesky