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Systems and methods for detection of chromosomal gains and losses

A chromosome and microdeletion technology, applied in the field of systems and methods for detecting chromosome gain and loss, capable of solving problems such as insufficient noise reduction

Inactive Publication Date: 2014-12-17
PERKINELMER CELLULAR TECH GERMANY GMBH
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  • Application Information

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Problems solved by technology

However, it has been found that the method does not sufficiently reduce noise, yielding more non-deterministic results

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  • Systems and methods for detection of chromosomal gains and losses
  • Systems and methods for detection of chromosomal gains and losses
  • Systems and methods for detection of chromosomal gains and losses

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example 1

[0204] Example 1: Detection of Chromosomal Targets Using Improved Statistical Methods

[0205] constitutive BoBs TM (BACs-on-Beads TM ) analysis was used to detect the five most common aneuploidies (chromosomes 13, 18, 21, X, and Y) and gains and losses in nine well-characterized regions of interest from genomic samples. Details of the assay can be found in US Patent No. 7,932,037. Briefly, 83 PCR-amplified bacterial artificial chromosome (BAC) clones (“probes”) covering regions of chromosomes 13, 18, 21, X, and Y and nine additional microdeleted regions ("probes") were ligated to color-coded small beads to enable molecular karyotyping in the wells. Negative control beads were also used in the ratio algorithm, as described below. The assay included five probes for aneuploidy detection of chromosomes 13, 18, 21, X, and Y and four to eight independent probes for additional regions of interest. Genomic DNA was extracted from male and female reference samples and each of the ...

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Abstract

A modified principal component analysis technique is described herein for analysis of relatively small data sets for the detection of chromosomal aneuploidies and / or microdeletions. Unlike analysis techniques for microarray studies, the present technique uses a modified principal component analysis that does not involve performing a covariance analysis. The methods, systems, and apparatus described herein allow for significant reduction of data noise in tests for the detection of chromosomal aneuploidies and / or microdeletions, leading to fewer inconclusive results.

Description

[0001] Related applications [0002] This application claims priority to U.S. Provisional Patent 61 / 589,150, entitled "Systems and Methods for Detection of Chromosomal Gains and Losses," filed January 20, 2012, the contents of which are incorporated by reference in their entirety way incorporated. Background technique [0003] The ability to detect genetic abnormalities such as chromosomal aneuploidy and microdeletions has a wide range of medical applications, including prenatal testing and cancer diagnosis. Determining the presence of a genetic abnormality in a sample requires analysis of the detected signal, eg a fluorescent signal. The signal is often affected by noise. Therefore, data analysis methods that reduce noise need to be used when processing signal data to determine the presence or absence of genetic abnormalities in patient samples. Existing statistical methods are used to analyze data obtained from genetic testing analyses. However, existing statistical meth...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G06F19/10G16B40/00G16B20/10G16B20/20G16B40/30
CPCG16B20/00G16B40/00G16B40/30G16B20/20G16B20/10
Inventor 考珀·帕洛
Owner PERKINELMER CELLULAR TECH GERMANY GMBH