Items where Author is "Gudkov, Mikhail"

Gudkov, Mikhail and Thibaut, Loïc and Giannoulatou, Eleni (2024) Context-adjusted proportion of singletons (CAPS): a novel metric for assessing negative selection in the human genome. NAR Genomics and Bioinformatics, 6 (3). ISSN 2631-9268

Gudkov, Mikhail and Thibaut, Loïc and Giannoulatou, Eleni (2024) Quantifying negative selection on synonymous variants. Human Genetics and Genomics Advances, 5 (2). p. 100262. ISSN 26662477

Gudkov, Mikhail and Thibaut, Loïc and Khushi, Matloob and Blue, Gillian M. and Winlaw, David S. and Dunwoodie, Sally L. and Giannoulatou, Eleni (2023) ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data. BMC Bioinformatics, 24 (1). ISSN 1471-2105

Blue, Gillian M. and Mekel, Mauk and Das, Debjani and Troup, Michael and Rath, Emma and Ip, Eddie and Gudkov, Mikhail and Perumal, Gopinath and Harvey, Richard P. and Sholler, Gary F. and Gecz, Jozef and Kirk, Edwin P. and Liu, Jinfen and Giannoulatou, Eleni and Hong, Haifa and Dunwoodie, Sally L. and Winlaw, David S. (2022) Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. American Heart Journal, 244. pp.1-13. ISSN 00028703