Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

SummaryRecent major cancer genome sequencing studies have used whole-genome sequencing to detect various types of genomic variation. However, a number of these studies have continued to rely on SNP array information to provide additional results for copy number and loss-of-heterozygosity estimation and assessing tumour purity. OncoSNP-SEQ is a statistical model-based approach for inferring copy number profiles directly from high-coverage whole genome sequencing data that is able to account for unknown tumour purity and ploidy.AvailabilityMATLAB code is available at the following URL:

Original publication




Journal article


Bioinformatics (Oxford, England)

Publication Date





2482 - 2484


Department of Mathematics, South Kensington Campus, Imperial College London, London SW7 2AZ, UK.


Humans, Neoplasms, Sequence Analysis, DNA, Genomics, Ploidies, Loss of Heterozygosity, Polymorphism, Single Nucleotide, Genome, Software Design, DNA Copy Number Variations