发明名称 COMPREHENSIVE FMR1 GENOTYPING
摘要 Disclosed herein are methods for the automated reconstruction of a genotype of a gene, fragment, or genomic region using exhaustive enumeration. The methods can be used to reconstruct the genotype of any GC-rich sequence, such as the CGG repeat region in the 5' UTR of FMR1 or the CCG repeat region in the 5' UTR of FMR2. Also disclosed is an apparatus for use in conducting automated genotype reconstruction, as well as methods of diagnosis and treatment using exhaustive enumeration methods to reconstruct and identify genotypes associated with a disease or disorder.
申请公布号 EP2888688(A1) 申请公布日期 2015.07.01
申请号 EP20130742577 申请日期 2013.07.19
申请人 ASURAGEN, INC. 发明人 CHOUDHARY, ASHISH;LATHAM, GARY;SAH, SACHIN
分类号 G06F19/18 主分类号 G06F19/18
代理机构 代理人
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