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METHODS AND PROCESSES FOR NON-INVASIVE ANALYSIS OF CELL-FREE FETAL NUCLEIC ACID ACCORDING TO SEQUENCE READ QUANTIFICATIONS FOR CHROMOSOMES 13, 18, AND 21

发明专利审中
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14权利要求 · 1 独立
§ Ⅰ

卷宗概要

发明人

Cosmin Deciu; Zeljko Dzakula

IPC 分类

G16B 20/10G16B 20/G16B 20/20G16B 25/G16B 25/10G16B 30/G16B 30/10G16B 30/20

CPC 分类

G16B20/10G16B20/G16B20/20G16B25/G16B25/10G16B30/G16B30/10G16B30/20

Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations. Provided in certain aspects are systems for analyzing cell-free nucleic acid sequence reads. Provided in certain aspects are systems for detecting a chromosome aneuploidy. Provided in certain aspects are systems for detecting a chromosome aneuploidy based on an analysis of cell-free nucleic acid sequence reads for chromosomes 13, 18, and 21.

原文(中文)

Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations. Provided in certain aspects are systems for analyzing cell-free nucleic acid sequence reads. Provided in certain aspects are systems for detecting a chromosome aneuploidy. Provided in certain aspects are systems for detecting a chromosome aneuploidy based on an analysis of cell-free nucleic acid sequence reads for chromosomes 13, 18, and 21.