Author

Sergii Ivakhno

Illumina (United Kingdom)

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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Bioinformatics· 3 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:variant calling· 4 Assay:whole-genome sequencing· 4 Approach:statistical model· 3 Research Focus:benchmarking· 1 Approach:deep learning· 1 Organism:human· 1 Approach:simulation· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Anthony J. CoxiD· 2 shared Camilla ColomboiD· 2 shared Eric E. Roller· 2 shared Stephen Tanner· 2 shared Aditi Chawla· 1 shared Alicia ScocchiaiD· 1 shared Alison J. CoffeyiD· 1 shared Alka MalhotraiD· 1 shared

Activity by Year

2016-2018 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersBioinformatics

Anthony J. CoxORCID

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Author profile →

4 papers

Recent·Most cited

Copy number variants in clinical WGS: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista K. Bluske, Nicole C. Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, , Ryan J. Taft

This study evaluates copy number variant detection in clinical whole genome sequencing, finding it as sensitive as microarrays with additional variants, and identifies clinically significant CNVs in 15% of cases.

Genetics in Medicine · Oct 3, 2018Peer-reviewedGenomics

Canvas SPW: Calling De Novo Copy Number Variants In Pedigrees

Sergii Ivakhno, Eric E. Roller, Camilla Colombo, Philip M. R. Tedder, Anthony J. Cox

Canvas SPW identifies inherited and de novo copy number variants in pedigree sequencing data by supporting various family structures and providing automated scoring and filtering options.

Bioinformatics · Sep 26, 2017Peer-reviewedBioinformatics

tHapMix: simulating tumour samples through haplotype mixtures

Sergii Ivakhno, Camilla Colombo, Stephen Tanner, Philip Tedder, Stefano Berri, Anthony J. Cox

tHapMix simulates tumour samples with varying ploidy, purity, and polyclonality to train and test somatic copy number variant calling tools.

bioRxiv · Aug 11, 2016Bioinformatics

Canvas: versatile and scalable detection of copy number variants

Eric Roller, Sergii Ivakhno, Steve Lee, Thomas Royce, Stephen Tanner

Canvas identifies copy number variants from diverse sequencing experiments and infers genome-wide parameters like ploidy and purity.

bioRxiv · Jan 13, 2016Bioinformatics