公开(公告)号：WO2023002046A1

公开(公告)日：2023-01-26

申请号：PCT/EP2022/070694

申请日：2022-07-22

Applicant: THE FRANCIS CRICK INSTITUTE ,  UNIVERSITY COLLEGE LONDON

Inventor： BENTHAM, Robert ,  WATKINS, Thomas Benjamin Kingdon ,  MCGRANAHAN, Nicholas ,  SWANTON, Charles

IPC: G16B20/00 ,  G16B30/00 ,  C12Q1/6869

Abstract: Methods for determining the fraction of lymphocytes in a mixed sample comprising genomic material from multiple cell types are described. The methods comprise obtaining a read depth profile for the sample along a predetermined genomic region of interest including at least a portion of a genomic locus that undergoes VDJ recombination; obtaining a plurality of read depth ratios (ri) by normalising the read depths by reference to a baseline read depth derived from a subset of the region of interest; obtaining a summarised read depth ratio value (rVDJ) for a subset of the region of interest that is likely to be deleted through VDJ recombination; and determining the fraction of lymphocytes (f) in the sample as a function of the summarised read depth ratio value (rVDJ). Methods of providing a diagnosis or prognosis based on the lymphocyte fraction are also described, as well as related systems and products.