Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Methods for determining absolute genome-wide copy number variations of complex tumors

A genome and copy number technology, which is applied in the fields of genomics, biochemical equipment and methods, and the determination/inspection of microorganisms, which can solve the problems of error-prone data and human bias.

Inactive Publication Date: 2015-03-18
COMPLETE GENOMICS INC
View PDF77 Cites 28 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

In these methods, copy number identification and its confirmation are based on different sample series, and the data used in such methods are relatively error-prone and notoriously contain some human bias

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Methods for determining absolute genome-wide copy number variations of complex tumors
  • Methods for determining absolute genome-wide copy number variations of complex tumors
  • Methods for determining absolute genome-wide copy number variations of complex tumors

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0041] In the following description, numerous specific details are set forth in order to provide a more thorough understanding of the present invention. It will be apparent, however, to one skilled in the art that the present invention may be practiced without one or more of these specific details. In other instances, features and procedures that are known to those skilled in the art have not been described in order to avoid obscuring the present invention.

[0042] Although the invention has been described primarily with reference to specific embodiments, it is contemplated that other embodiments will become apparent to those skilled in the art after reading this disclosure, and it is intended that such embodiments be included within In the method of the present invention.

[0043] Unless defined otherwise, all technical and scientific terms used herein have the same meaning as commonly understood by one of ordinary skill in the art to which this invention belongs. All publ...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

Methods for interpreting absolute copy number of complex tumors and for determining the copy number of a genomic region at a detection position of a target sequence in a sample are disclosed. In certain aspects, genomic regions of a target sequence in a sample are sequenced and measurement data for sequence coverage is obtained. Sequence coverage bias is corrected and may be normalized against a baseline sample. Hidden Markov Model (HMM) segmentation, scoring, and output are performed, and in some embodiments population-based no-calling and identification of low-confidence regions may also be performed. A total copy number value and region-specific copy number value for a plurality of regions are then estimated.

Description

[0001] related application [0002] This application is a continuation-in-part of and claims priority to U.S. Application Serial No. 13 / 270,989, filed October 11, 2011, which claims U.S. Provisional Patent Application No. 61 / 503,327, filed June 30, 2011, and 2010 Priority to U.S. Provisional Patent Application No. 61 / 392,567, filed October 13, 2009. This application also claims priority to US Provisional Patent Application Serial No. 61 / 643,225, filed May 4, 2012. The entire contents of each of them are incorporated by reference into this application in their entirety as if fully set forth herein. Background of the invention [0003] Genomic abnormalities are often associated with various genetic and degenerative diseases, as well as cancer. For example, loss or gain of gene copies and deletion or amplification of genomic segments or specific regions are not uncommon in cancer. For example, alterations in proto-oncogenes and tumor suppressor genes, respectively, are common ...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12Q1/68G16B20/10G16B20/20G16B30/10G16B30/20
CPCC12Q2600/156G06F19/22C12Q1/6827C12Q1/6886G16B30/00G16B20/20G16B30/10G16B20/10G16B30/20C12Q2537/16G16B20/00C12Q2535/122C12Q2537/165
Inventor 亚伦·哈珀恩克利须那·潘特
Owner COMPLETE GENOMICS INC
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com