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Non-unique barcodes in a genotyping assay

A barcode, unique technology, applied in genomics, microbial assay/inspection, instrument, etc., can solve the problem of not providing analytical sensitivity and specificity

Pending Publication Date: 2019-07-16
PERSONAL GENOME DIAGNOSTICS INC
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

Current methods do not provide sufficient analytical sensitivity and specificity

Method used

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  • Non-unique barcodes in a genotyping assay
  • Non-unique barcodes in a genotyping assay
  • Non-unique barcodes in a genotyping assay

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Embodiment

[0055] A validation study was conducted for research use. The goal of the research is to prove that the combination of next-generation library preparation and target gene capture of the use set is reproducible and accurate for sequencing on the Illumina HiSeq sequencing platform. The group under study is the targeted, well-characterized cancer genome, called PlasmaSelect TM Group, currently developed by PGDx (Baltimore, MD). Using a combination of derived cell lines and clinical plasma samples to validate this method can identify tumor-specific sequence mutations, amplifications, and translocations in a set of genes related to clinical and biomedical cancer research. The scope of method validation is to use this assay in studies using plasma samples from cancer patients to evaluate image 3 with 4 Gene shown in.

[0056] Method and treatment description

[0057] 1. Sample preparation, library generation and DNA capture

[0058] DNA extraction and processing

[0059] Target gene s...

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Abstract

The present disclosure involves ctDNA assays that interrogate many regions from a single sample with high precision and accuracy, while evaluating multiple forms of cancer-related genomic alterationsincluding sequence mutations and structural alterations. The disclosure provides simplified yet robust methods that achieve high sensitivity and specificity by analyzing cancer genes using a limited pool of non-unique barcodes in combination with endogenous barcodes. Samples are captured and sequenced using high coverage next-generation sequencing to allow tumor-specific somatic mutations, amplifications, and translocations to be identified.

Description

[0001] Cross-references to related applications (one or more) [0002] This application claims the rights and priority of U.S. Provisional Application Serial No. 62 / 422,355 filed on November 15, 2016, the content of which is incorporated herein by reference in its entirety. Technical field [0003] The present invention generally relates to a barcoding strategy for nucleic acid analysis of tumor-specific biomarkers. Background technique [0004] In the United States alone, cancer causes more than half a million deaths each year. The success of current treatment depends on the type of cancer and its stage when it is detected. Various treatments include expensive and painful surgery and chemotherapy, and are often unsuccessful. [0005] Early and accurate detection of mutations is necessary for effective cancer treatment. One promising area in personalized cancer treatment is the analysis of circulating tumor DNA (ctDNA). ctDNA is released from tumor tissue into the blood, carries t...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6869G16B20/20C40B40/06C40B50/06
CPCC12Q2535/122C12N15/1065C12Q1/6886C12Q2600/156C12Q1/6827C12Q1/6874C12Q1/6855C12Q2537/159C12Q2563/179C12Q2525/161C12Q2535/131C12Q2537/143
Inventor M·索森V·沃克里斯科L·迪亚斯
Owner PERSONAL GENOME DIAGNOSTICS INC