Abstract: The present invention provides methods of characterising a DNA sample obtained from a tumour to produce an interpreted profile of the tumour based on a combination of a range of tests on the tumour, the tests including a selection from: determining a catalogue of base substitution signatures which are present in the sample; determining a catalogue of rearrangement signatures which are present in the sample; determining a catalogue of insertion/deletion signatures which are present in the sample; determining the overall copy number profile in the sample and identifying putative driver mutations present in the sample.

Abstract: A computer-implemented method that is for assessing pathogenicity of a variant for a patient. Receive a variant. Determine at least one probability for the variant in relation to pathogenic metrics based on a collection of learned variants. The pathogenic metrics comprise a data representation of at least one genetic condition cluster for determining at least one probability for the variant. The combined representation of at least one probability of the variant for the patient is outputted.

Abstract: A screening system includes control circuitry that determines gene variants present in a compiled genome representative of a subject based on a difference between a reference genome and the compiled genome representative of the subject, and acquires phenotype information from an observation of the subject. The control circuitry further generates multi-dimensional data structure that includes the gene variants in respect of a first dimension, the phenotype information in respect of a second dimension; and a set of data samples in respect of a third dimension. The set of data samples includes the compiled genome sequence representative of the subject, and corresponding historical data samples of other subjects including their corresponding transcript information (for example, including phenotype information) of the other subjects and their gene variants.

Abstract: The invention provides a method of characterising a DNA sample obtained from a tumour, the method including the steps of: determining the presence or absence of a plurality of base substitution signatures, rearrangement signatures and indel signatures in the sample and copy number profiles for the sample; generating, from the presence or absence of said plurality of base substitution signatures, rearrangement signatures and indel signatures and the copy number profile for the sample, a probabilistic score; and based on said probabilistic score, identifying whether said sample has a high or low likelihood of being homologous recombination (HR)-deficient. Identification of a tumour as HR-deficient may be used to inform treatment choices, for example treatment with a PARP inhibitor or platinum therapy or an anthracycline.

Abstract: The present invention provides methods of characterising a DNA sample obtained from a tumour to produce an interpreted profile of the tumour based on a combination of a range of tests on the tumour, the tests including a selection from: determining a catalogue of base substitution signatures which are present in the sample; determining a catalogue of rearrangement signatures which are present in the sample; determining a catalogue of insertion/deletion signatures which are present in the sample; determining the overall copy number profile in the sample and identifying putative driver mutations present in the sample.