RESOLVING GENOME FRACTIONS USING POLYMORPHISM COUNTS

Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data from a multigenomic source is used to determine allele counts for one or more of the polymorphisms. For one or more of the pol...

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Bibliographic Details
Main Authors RHEES, Brian K, RAVA, Richard P, BURKE, John P
Format Patent
LanguageEnglish
Hungarian
Published 30.11.2020
Subjects
BEER
BIOCHEMISTRY
CHEMISTRY
COMPOSITIONS OR TEST PAPERS THEREFOR
CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES
ENZYMOLOGY
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
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Summary:Methods of reliably estimating genomic fraction (e.g., fetal fraction) from polymorphisms such as small base variations or insertions-deletions are disclosed. Sequenced data from a multigenomic source is used to determine allele counts for one or more of the polymorphisms. For one or more of the polymorphisms, zygosity is assigned, and genomic fraction is determined from the zygosity and allele counts. Certain embodiments employ SNPs as the relevant polymorphism. The disclosed methods can be applied as part of an intentional, pre-designed re-sequencing study targeted against known polymorphisms or can be used in a retrospective analysis of variations found by coincidence in overlapping sequences generated from maternal plasma (or any other setting where a mixture of DNA from several people are present).
Bibliography:Application Number: HUE18186518