Author

Loïc Thibaut

Garvan 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.

Biology Disciplines

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Genomics· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Assay:whole-genome sequencing· 2 Research Focus:benchmarking· 1 Organism:human· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Eleni GiannoulatouiD· 2 shared Mikhail GudkoviD· 2 shared Congenital Heart Disease Synergy Study Group· 1 shared David Scott WinlawiD· 1 shared Debjani DasiD· 1 shared Edwin Philip KirkiD· 1 shared Gary F. SholleriD· 1 shared Gavin ChapmaniD· 1 shared

Activity by Year

2024-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenomics

Eleni GiannoulatouORCID

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2 papers

Recent·Most cited

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

Improving estimates of negative selection in human genome using CAPS

Mikhail Gudkov, Loïc Thibaut, Eleni Giannoulatou

The paper introduces CAPS, a novel metric for estimating negative selection in the human genome that improves upon MAPS by removing the mutability layer, resulting in less biased estimates and more accurate confidence intervals.

bioRxiv · Jan 23, 2024 · PreprintGenomics