染色体提示の決定 - Sequenom, Inc.

Title:

染色体提示の決定

Document Type and Number:

Japanese Patent JP7446979

Kind Code:

B2

Abstract:

The present invention relates to a method for determining a sequence read count representation of a genome segment for a diagnostic test, comprising: (a) generating a count of nucleic acid sequence reads for a genome segment, which sequence reads are reads of nucleic acid from a test sample from a subject having the genome, thereby providing a count A for the segment; (b) generating a count of nucleic acid sequence reads for the genome or a subset of the genome, thereby providing a count B for the genome or subset of the genome; and (c) determining a count representation for the segment as a ratio of the count A to the count B, wherein the sequence reads are not subjected to an alignment process that aligns the sequence reads to the reference genome in (a), (b) and (c).

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Inventors:

Chen Zhao
cosmin dechiu

Application Number:

JP2020191605A

Publication Date:

March 11, 2024

Filing Date:

November 18, 2020

Export Citation:

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Assignee:

Sequenom, Inc.

International Classes:

C12Q1/68; C12M1/00; C12M1/34; C12Q1/6869

Foreign References:

WO2013052913A2
WO2012162884A1

Attorney, Agent or Firm:

Shusaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto

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