Method and device for acquiring fetal fraction of cell-free DNA, storage medium and electronic device
Disclosed are a method and a device for acquiring the fetal fraction of cfDNA, a storage medium and an electronic device. The method comprises: acquiring sequencing data of a sample taken from a mother pregnant with a fetus; establishing a joint probability distribution model of the maternal and fet...
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| creator | BAI, Ling ZHANG, Jingbo XU, Hanli WU, Qixi GUAN, Yongtao Wang, Weiwei WANG, Jianwei FANG, Nan |
| description | Disclosed are a method and a device for acquiring the fetal fraction of cfDNA, a storage medium and an electronic device. The method comprises: acquiring sequencing data of a sample taken from a mother pregnant with a fetus; establishing a joint probability distribution model of the maternal and fetal genotypes, the joint probability distribution model containing one or more factors affecting the read heterozygosity, the percentage of the read heterozygosity being the ratio of the number of SNPs covered by different bases to the total number of SNPs covered by more than one reads in the sequencing data; substituting the values of the one or more factors and of the acquired read heterozygosity into the established joint probability distribution model; and obtaining the fetal fraction of cfDNA by maximum likelihood estimation of the joint probability distribution model. |
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The method comprises: acquiring sequencing data of a sample taken from a mother pregnant with a fetus; establishing a joint probability distribution model of the maternal and fetal genotypes, the joint probability distribution model containing one or more factors affecting the read heterozygosity, the percentage of the read heterozygosity being the ratio of the number of SNPs covered by different bases to the total number of SNPs covered by more than one reads in the sequencing data; substituting the values of the one or more factors and of the acquired read heterozygosity into the established joint probability distribution model; and obtaining the fetal fraction of cfDNA by maximum likelihood estimation of the joint probability distribution model.</description><language>eng</language><subject>BEER ; BIOCHEMISTRY ; CALCULATING ; CHEMISTRY ; COMPOSITIONS OR TEST PAPERS THEREFOR ; COMPUTING ; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES ; COUNTING ; ELECTRIC DIGITAL DATA PROCESSING ; ENZYMOLOGY ; HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATIONTECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING ORPROCESSING OF MEDICAL OR HEALTHCARE DATA ; INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS ; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS ; METALLURGY ; MICROBIOLOGY ; MUTATION OR GENETIC ENGINEERING ; PHYSICS ; PROCESSES OF PREPARING SUCH COMPOSITIONS ; SPIRITS ; VINEGAR ; WINE</subject><creationdate>2020</creationdate><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20200213&DB=EPODOC&CC=US&NR=2020048714A1$$EHTML$$P50$$Gepo$$Hfree_for_read</linktohtml><link.rule.ids>230,308,780,885,25564,76547</link.rule.ids><linktorsrc>$$Uhttps://worldwide.espacenet.com/publicationDetails/biblio?FT=D&date=20200213&DB=EPODOC&CC=US&NR=2020048714A1$$EView_record_in_European_Patent_Office$$FView_record_in_$$GEuropean_Patent_Office$$Hfree_for_read</linktorsrc></links><search><creatorcontrib>BAI, Ling</creatorcontrib><creatorcontrib>ZHANG, Jingbo</creatorcontrib><creatorcontrib>XU, Hanli</creatorcontrib><creatorcontrib>WU, Qixi</creatorcontrib><creatorcontrib>GUAN, Yongtao</creatorcontrib><creatorcontrib>Wang, Weiwei</creatorcontrib><creatorcontrib>WANG, Jianwei</creatorcontrib><creatorcontrib>FANG, Nan</creatorcontrib><title>Method and device for acquiring fetal fraction of cell-free DNA, storage medium and electronic device</title><description>Disclosed are a method and a device for acquiring the fetal fraction of cfDNA, a storage medium and an electronic device. 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The method comprises: acquiring sequencing data of a sample taken from a mother pregnant with a fetus; establishing a joint probability distribution model of the maternal and fetal genotypes, the joint probability distribution model containing one or more factors affecting the read heterozygosity, the percentage of the read heterozygosity being the ratio of the number of SNPs covered by different bases to the total number of SNPs covered by more than one reads in the sequencing data; substituting the values of the one or more factors and of the acquired read heterozygosity into the established joint probability distribution model; and obtaining the fetal fraction of cfDNA by maximum likelihood estimation of the joint probability distribution model.</abstract><oa>free_for_read</oa></addata></record> |
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| subjects | BEER BIOCHEMISTRY CALCULATING CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPUTING CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES COUNTING ELECTRIC DIGITAL DATA PROCESSING ENZYMOLOGY HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATIONTECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING ORPROCESSING OF MEDICAL OR HEALTHCARE DATA INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MUTATION OR GENETIC ENGINEERING PHYSICS PROCESSES OF PREPARING SUCH COMPOSITIONS SPIRITS VINEGAR WINE |
| title | Method and device for acquiring fetal fraction of cell-free DNA, storage medium and electronic device |
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