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Cancer tissue source of origin prediction with multi-tier analysis of small variants in cell-free DNA samples

A source and tissue technology, applied in the direction of image analysis, sequence analysis, microbial determination/inspection, etc., can solve the problem that cancer indicator signals have not yet been revealed

Pending Publication Date: 2021-07-30
GRAIL LLC
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Analysis of cfDNA may be more beneficial than traditional tumor biopsy methods; however, labeling in tumor-derived cfDNA faces serious challenges, especially for purposes such as early detection of cancer and early prediction of cancer tissue origin, where cancer Indicative signals have not yet been indicated

Method used

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  • Cancer tissue source of origin prediction with multi-tier analysis of small variants in cell-free DNA samples
  • Cancer tissue source of origin prediction with multi-tier analysis of small variants in cell-free DNA samples
  • Cancer tissue source of origin prediction with multi-tier analysis of small variants in cell-free DNA samples

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Embodiment Construction

[0047] The drawings and the following description refer to the preferred embodiment by way of illustration only. It should be noted, from the following discussion, that alternative embodiments of the structures and methods disclosed herein will readily be considered as viable alternatives that may be employed without departing from the principles claimed.

[0048] Reference will now be made in detail to several embodiments, examples of which are illustrated in the accompanying drawings. It is to be noted that where practicable, like or similar reference numerals may be used in the drawings and may indicate like or similar functionality. For example, a letter following a reference number such as "predictive model 160a" indicates that the text refers specifically to the element with that particular reference number. A reference number without a subsequent letter in the text, such as "predictive model 160", refers to any or all elements in the figure with that reference number (...

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Abstract

A predictive cancer model generates a prediction of cancer tissue source of origin for a subject of interest by analizing values of one or more types of features that are derived from cfDNA obtained from the individual. Specifically, cfDNA from the individual is sequenced to generate sequence reads using one or more physical assays, examples of which include a small variant sequencing assay. The sequence reads of the physical assays are processes through corresponding computational analyses to generate small variant features and other features. The values of features can be provided to a prediction model that generates a prediction of cancer tissue source of origin and / or cancer presence.

Description

technical field [0001] The present disclosure relates generally to predicting cancer tissue of origin in a subject, and more particularly to performing one or more physical and / or computational assays on a test sample obtained from a subject in order to predict cancer tissue of origin. Background technique [0002] Analysis of circulating cell-free nucleotides such as cell-free DNA (cfDNA) using next-generation sequencing (NGS) is considered a valuable tool for the detection and diagnosis of cancer. Analysis of cfDNA may be more beneficial than traditional tumor biopsy methods; however, labeling in tumor-derived cfDNA faces serious challenges, especially for purposes such as early detection of cancer and early prediction of cancer tissue origin, where cancer Indicative signals have not yet been indicated. Accurately predicting the characteristics and origin of a subject's cancer with sufficient sensitivity and specificity through the use of cfDNA faces various challenges. ...

Claims

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Application Information

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IPC IPC(8): G16B20/50G16B40/20
CPCG16B40/20G16B20/50G16H70/60G16H10/60G16H50/70G16H50/20G06N20/20G06N20/10G16B20/00G16B30/00G16B40/00G06V20/698C12Q1/6886G06N5/04G16B20/20G06F18/24G06N5/01
Inventor E·哈贝尔刘勤文
Owner GRAIL LLC
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