公开(公告)号：US12062416B2

公开(公告)日：2024-08-13

申请号：US16096731

申请日：2017-04-28

Applicant: GENOME RESEARCH LIMITED

Inventor： Serena Nik-Zainal ,  Helen Davies ,  Dominik Glodzik ,  Sandro Morganella

IPC: G16B25/10 ,  C12Q1/6809 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  G16B40/30

CPC classification number: G16B25/10 ,  C12Q1/6809 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B20/40 ,  G16B40/30 ,  C12Q1/6809 ,  C12Q2535/122 ,  C12Q2537/165

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.