- PUBLISHED 24 September 2025Bioinformatics Advances
Benchmarking of variant pathogenicity prediction methods using a population genetics approach
Authors:
Mikhail Gudkov, Loïc Thibaut, Steven Monger, Debjani Das, David S Winlaw, Sally L Dunwoodie, Eleni Giannoulatou,
- PUBLISHED 29 August 2024NAR Genomics and Bioinformatics
Context-adjusted proportion of singletons (CAPS): a novel metric for assessing negative selection in the human genome
Authors:
Mikhail Gudkov, Loïc Thibaut, Eleni Giannoulatou
- PUBLISHED 8 January 2024HGG Advances
Quantifying negative selection on synonymous variants
Authors:
Mikhail Gudkov, Loïc Thibaut, Eleni Giannoulatou
- PUBLISHED 15 February 2023BMC Bioinformatics
ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data
Authors:
Mikhail Gudkov, Loïc Thibaut, Matloob Khushi, Gillian M Blue, David S Winlaw, Sally L Dunwoodie, Eleni Giannoulatou
- PUBLISHED 17 October 2021American Heart Journal
Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes
Authors:
Gillian M Blue, Mauk Mekel, Debjani Das, Michael Troup, Emma Rath, [ ... ], Mikhail Gudkov, [ ... ], Jinfen Liu, Eleni Giannoulatou, Haifa Hong, Sally L Dunwoodie, David S Winlaw
