Methods and systems for detecting copy number alterations

JP2024541815A5Pending Publication Date: 2025-10-10FOUNDATION MEDICINE INC
0 Cites 0 Cited by

Patent Information

Application Number
JP2024520589
Authority / Receiving Office
JP · JP
Patent Type
Applications
Current Assignee / Owner
Priority Date
2021-10-08
Filing Date
2022-10-07
Publication Date
2025-10-10

AI Technical Summary

Technical Problem

Current methods for analyzing copy number alterations (CNAs) in genomic data face challenges in efficiently interpreting amplifications and deletions due to the redundancy of allele frequencies and coverage ratios, making it difficult to discern copy number changes visually.

Method used

The implementation of a copy number grid model that overlays coverage ratios and allele frequencies on the same graph, allowing for more efficient visualization and interpretation of copy number changes by fitting grid-based models to sequence read data.

Benefits of technology

This approach enhances the ability to accurately call and confirm copy number alterations by providing a comprehensive display of data, facilitating manual or automated confirmation of copy number status in genomic segments.

✦ Generated by Eureka AI based on patent content.
Patent Text Reader

Abstract

Described herein are methods and systems for calling copy number alterations (CNAs), including methods and systems for fitting a grid-based copy number model to sequence read data. The methods may include generating minor and major allele coverage ratios for a plurality of loci, transforming the allele coverage data, and fitting a copy number grid model to the data. The fitted copy number grid model may then be used to assign copy number states or call copy number alterations. The copy number grid model and the transformed allele coverage ratio data may be displayed for review of the presented model, allowing for more efficient data interpretation and calling of copy number states or copy number alterations.
Need to check novelty before this filing date? Find Prior Art