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METHOD FOR DETERMINING COPY-NUMBER VARIATION IN SAMPLE COMPRISING MIXTURE OF NUCLEIC ACIDS
专利权人:
GREEN CROSS GENOME CORPORATION
发明人:
CHO, Eun-Hae,LEE, Junnam,JEON, Young-Joo,JANG, Ja-Hyun,LEE, Taeheon
申请号:
WO2015KR13210
公开号:
WO2017094941(A1)
申请日:
2015.12.04
申请国别(地区):
世界知识产权组织国际局
年份:
2017
代理人:
摘要:
The present invention relates to a method for determining copy-number variation in a mixture of nucleic acids which are known or considered to be different in the amount of one or more target sequences, and more particularly, to a method for determining copy-number variation including a bioinformatic analysis method and a statistical analysis method for interpreting variability occurring between chromosomes and between sequencings. A variation determination according to the present invention can be used to determine chromosomal copy-number variation which is associated with or considered to be associated with a medical condition of a fetus. The chromosomal copy-number variation that can be determined according to the method of the present invention may comprise a deletion and/or duplication of the trisome and monosome of any one or more from among chromosomes 1-22, X and Y, the polysome for the entire nucleic acid sequence, and any one or more sequence fragments in the chromosomes, and therefore, is useful fo
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