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Kit and method of using same

A technology of kits and algorithms, applied in biochemical equipment and methods, microbial measurement/testing, genomics, etc., can solve problems such as high cost

Pending Publication Date: 2022-07-08
コンジェニカリミテッド
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The present disclosure further seeks to provide a disjoint approach to the detection, visualization and / or further analysis of different variant types (SNVs, CNVs and indels) using separate tests, tools and platforms and for the identification of different variant types. A solution to the existing problem of high cost involved in multiple tests

Method used

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  • Kit and method of using same

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Embodiment Construction

[0116] The following detailed description illustrates embodiments of the present disclosure and the manner in which they may be practiced. Although some modes of carrying out the disclosure have been disclosed, those skilled in the art will recognize that other embodiments for carrying out or practicing the disclosure are possible.

[0117] In one aspect, the present disclosure provides a kit for genetic screening for use in a device, wherein the kit, when in operation, performs a wet laboratory assay, wherein the assay comprises treatment derived from one or more genetic material of an exome of a single cell, wherein the assay detects single nucleotide variants (SNVs), indels and copy number variations (CNVs) in genetic DNA reads from the genetic material,

[0118] The kit is characterized in that,

[0119] The kit can be performed as a single assay for processing the genetic material; and

[0120] The kit includes a software product executable on computing hardware to caus...

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Abstract

A kit for genetic screening for use in a device, wherein the kit performs a wet laboratory assay at the time of operation. The assays include processing a genetic material derived from one or more cell exons and detecting single nucleotide variants (SNVs), insertion deletions, and copy number variations (CNVs) in genetic DNA readings from the genetic material. The kit can be performed as a single assay for processing the genetic material. The kit includes a software product executable on computing hardware to cause the computing hardware to invoke an algorithm to process the genetic DNA readings by comparing portions of the genetic DNA readings to DNA sequence transcripts in order to determine a probability of occurrence of the DNA sequence transcripts in the DNA reading data. The algorithm is used to simultaneously detect both SNVs and CNVs in the genetic DNA readings from the genetic material, and annotate clinically relevant CNVs.

Description

technical field [0001] The present disclosure generally relates to genomics or systems, devices and processes for clinical genomics; more particularly, the present disclosure relates to kits or for using the kits to perform wet laboratory assays for processing genetic material Kits or methods for accurate and cost-effective identification of multiple variant types in a single assay with significantly improved accuracy and efficiency. The present disclosure further relates to systems and methods for efficiently acquiring and accurately processing genomic sequence data sets and addressing the effects of bias to accurately detect copy number variants in a given genomic sequence data set. Background technique [0002] With recent advances in medical and computational technologies, rapid progress has been made in genome sequencing and the analysis of corresponding sequencing data. Sequencing data is typically generated in short read sequences, eg, between 50 and 300 deoxyribonuc...

Claims

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Application Information

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IPC IPC(8): G16B20/10
CPCG16B20/10G16B20/20C12Q1/6809C12Q1/6827C12Q1/6869C12Q1/6883G16B30/00G16B40/20
Inventor N.伦奇S.德鲁里Y.帕特尔T.瑞尼
Owner コンジェニカリミテッド
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