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System and method for cleaning noisy genetic data and using genetic, phentoypic and clinical data to make predictions

A technology of data and genetic material, applied in the field of genetic data, can solve problems such as lack of certainty

Active Publication Date: 2009-01-14
NATERA
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Irinotecan has no established role in biological pathways, making prediction of clinical outcome difficult

Method used

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  • System and method for cleaning noisy genetic data and using genetic, phentoypic and clinical data to make predictions
  • System and method for cleaning noisy genetic data and using genetic, phentoypic and clinical data to make predictions
  • System and method for cleaning noisy genetic data and using genetic, phentoypic and clinical data to make predictions

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Experimental program
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Embodiment Construction

[0111] A conceptual description of the system

[0112] One goal of the system disclosed in the present invention is to be able to provide genetic data with high accuracy for genetic diagnosis. When the genetic data from an individual contains a large amount of interference information or wrong information, the system disclosed in the present invention can use the similarity between the genetic data of related individuals and the information contained in the secondary genetic data to analyze the information contained in the target chromosome group. Interference information to be cleared. This is done by determining which chromosome segments reacted during gamete formation, where cross-linking occurred during meiosis, and which secondary genome segments could be identified as compatible with the target chromosome set The snippets are almost identical. In some cases, this method can be used to clean up interfering base pair measurements, but it can also be used to infer the i...

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Abstract

A system and method for determining the genetic data for one or a small set of cells, or from fragmentary DNA, where a limited quantity of genetic data is available, and also for predicting likely phenotypic outcomes using mathematical models and given genetic, phenotypic and / or clinical data of an individual, and also relevant aggregated medical data consisting of genotypic, phenotypic, and / or clinical data from germane patient subpopulations. Genetic data for the target individual is acquired and amplified using known methods, and poorly measured base pairs, missing alleles and missing regions are reconstructed using expected similarities between the target genome and the genome of genetically related subjects.

Description

[0001] Cross-Referenced Related Applications [0002] This application, pursuant to 35 U.S.C § 119(e), claims the benefit of the following U.S. provisional patent applications: Serial No. 60 / 739882, filed November 26, 2005; Serial No. 60 / 742305, filed Date December 6, 2005; Serial No. 60 / 754396, filing date December 29, 2005; Serial No. 60 / 774976, filing date February 21, 2006; Serial No. 60 / 789506, Filed April 4, 2006; Serial No. 60 / 817741, filed June 30, 2006; Serial No. 11 / 496982, filed July 31, 2006; and Serial No. 60 / 846610, filing date December 22, 2006; the entire contents of the above-mentioned published documents are hereby incorporated by reference. technical field [0003] The present invention relates to the field of obtaining, manipulating and using genetic data for the purpose of medical prognostication, and in particular to a system for using known genetic data from genetically related individuals to make genetic data of incomplete determination more precise, ...

Claims

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Application Information

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IPC IPC(8): G06F19/00G16B20/20G16B20/10G16B20/40G16B40/20G16B40/30
CPCG16B20/00G16B30/00G16B40/00C12Q1/6809C12Q1/6874C12Q1/6869G16B40/30G16B20/40G16B20/10G16B40/20G16B20/20C12Q2535/122C12Q2537/165
Inventor M·罗比诺威特茨M·班杰维齐Z·P·德姆科D·S·约翰逊
Owner NATERA
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