Methods and systems for genome analysis

A genome and gene technology, applied in the field of genome analysis and systems, can solve the problem of no method for automated analysis of personal genome sequences

Inactive Publication Date: 2017-04-19
FABRIC GENOMICS INC +1
View PDF11 Cites 16 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

While great progress has been made in deoxyribonucleic acid (DNA) sequence read alignment and variant calling, there are few methods for the automated analysis of individual genome sequences

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 and systems for genome analysis
  • Methods and systems for genome analysis
  • Methods and systems for genome analysis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0161] Various method and system embodiments illustrating the present disclosure will now be discussed. It should be understood that these examples are intended to illustrate the various methods and systems of the present disclosure and are not intended to be limiting.

[0162] Phenotype and candidate gene information. Using patient phenotype and candidate gene information from multiple sources, Phevor can improve diagnostic accuracy. In the simplest case, the user provides a tab-delimited list of terms describing patient phenotypes extracted from the Human Phenotype Ontology (HPO) [11]. Alternatively, the list can include terms from Disease Ontology (DO) [13], Mammalian Phenotype Ontology (MPO) [12], Gene Ontology [14] or OMIM Disease Terms [22]. Lists containing terms from more than one ontology are also allowed. Users can also employ the online tool Phenomizer [21] to describe patient phenotypes and assemble lists of candidate genes. Phenomizer reports can be downloaded...

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

The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

Description

[0001] cross reference [0002] This application claims the benefit of US Provisional Patent Application Serial No. 61 / 927,459, filed January 14, 2014, which is hereby incorporated by reference in its entirety. [0003] Statement of Federally Funded Research [0004] This invention was made with government support under grant numbers R44HG3667, R43LM10874, R43HG6579 and R44HG6579. The government has certain rights in this invention. Background technique [0005] Manual analysis of an individual's genome sequence is a massive, labor-intensive task. While great progress has been made in deoxyribonucleic acid (DNA) sequence read alignment and variant calling, there are few methods for automated analysis of an individual's genome sequence. Indeed, the ability to automatically label variants, combine data from multiple projects, and recover subsets of labeled variants for diverse downstream analysis is becoming a critical analytical bottleneck. [0006] Researchers are now c...

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
Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/18G06F19/28G16B45/00
CPCG16B50/00G16B20/00G16B50/10G16B20/20G16B40/00G16B30/00G16B45/00G06F40/169G16B20/30G16B20/40G16B30/10G06F7/02
Inventor 马克·辛格尔顿马丁·里斯卡伦·埃尔贝克马克·严德尔
Owner FABRIC GENOMICS INC
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Try Eureka
PatSnap group products

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

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap