Author

Samantha J. Lain

The University of SydneyORCID 0000-0002-8988-7407Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 1 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

David Scott WinlawiD· 2 shared Eleni GiannoulatouiD· 2 shared Gary F. SholleriD· 2 shared Gavin ChapmaniD· 2 shared Gillian M. BlueiD· 2 shared Natasha NassariD· 2 shared Sally L. DunwoodieiD· 2 shared Ceilidh L. MarchantiD· 1 shared

Activity by Year

2024-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersDevelopmental Biology

David Scott WinlawORCID

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2 papers

Recent·Most cited

Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development

Sophie Wiszniak, Dimuthu Alankarage, Iman Lohraseb, Ceilidh L. Marchant, Genevieve A. Secker, Deepti Domingo, Jasmine Hartmann, Tianyang Zhang, Wendy Parker, John Toubia, Melissa A. White, Sandra Piltz, Markus Tondl, Eleni Giannoulatou, David Scott Winlaw, , Quenten Schwarz

The paper identifies DKK1 from neural crest cells as a regulator of Wnt signaling in the second heart field, crucial for cardiac outflow tract development and linked to congenital heart disease.

Nature Communications · Jan 22, 2026Peer-reviewedDevelopmental Biology

Benchmarking of variant pathogenicity prediction methods using a population genetics approach

Mikhail Gudkov, Loïc Thibaut, Steven Monger, Debjani Das, David Scott Winlaw, Sally L. Dunwoodie, Eleni Giannoulatou, Congenital Heart Disease Synergy Study Group, Natasha Nassar, Edwin Philip Kirk, Gavin Chapman, Gillian M. Blue, Gary F. Sholler, 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.

Bioinformatics Advances · Dec 26, 2024Peer-reviewedGenomics