METHOD FOR DETERMINING GENOTYPES IN REGIONS OF HIGH HOMOLOGY

Described herein are methods directed to determining the carrier status or genotype of a subject. Described herein is a method that combines experimental and computational approaches to resolve the structure of genomic loci (i.e., the genotype) whose sequences are highly homologous to other sequence...

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Bibliographic Details
Main Authors MAGUIRE, Jared Robert, EVANS, Eric Andrew, ROBERTSON, Alexander De Jong, MUZZEY, Dale Edward
Format Patent
LanguageChinese
English
Published 06.07.2018
Subjects
INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS
PHYSICS
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Summary:Described herein are methods directed to determining the carrier status or genotype of a subject. Described herein is a method that combines experimental and computational approaches to resolve the structure of genomic loci (i.e., the genotype) whose sequences are highly homologous to other sequences in the genome. In particular, the determination of carrier status and/or copy number of a gene in a subject, wherein the gene has a corresponding highly homologous homolog, e.g., gene or pseudogene, utilizes Next Generation Sequencing. Also described herein is a computer-assisted method for such determinations.
Bibliography:Application Number: HK20180102609