公开(公告)号：US20230014674A1

公开(公告)日：2023-01-19

申请号：US17290924

申请日：2019-11-07

Applicant: Cancer Research Technology Limited

Inventor： Florent Mouliere ,  Dineika Chandrananda ,  Anna Piskorz ,  James Brenton ,  Nitzan Rosenfeld

IPC: G16B40/20 ,  G16B30/00 ,  C12N15/10 ,  G16H10/40 ,  G16H50/20 ,  G16H50/70 ,  G16H70/60

Abstract: The present invention provides a computer-implemented method for detecting variant nucleic acid from a cell-free nucleic acid-containing sample. The method comprises (a) providing data representing fragment sizes of nucleic acid fragments obtained from said sample and/or representing a measure of deviation from copy number neutrality of the nucleic acid fragments obtained from said sample; b) processing the data from step a) according to a classification algorithm, wherein said classification algorithm operates to classify sample data into one of at least a first class containing the variant nucleic acid and a second class not containing the variant nucleic acid, based on a plurality of cell-free nucleic acid fragment size features and/or a deviation from copy number neutrality feature; and c) outputting the classification of the sample from step b, thereby determining whether the sample contains the variant nucleic acid or not, or a probability that the sample contains the variant nucleic acid. Related methods are also provided.