发明名称 |
Method and system for detecting regulatory single nucleotide polymorphisms |
摘要 |
A computer-implemented method for detecting a regulatory single nucleotide polymorphism (rSNP). The method comprises determining a first score representative of a transcription factor binding affinity of a first allele, and a second score representative of a transcription factor binding affinity of a second allele. The first and second alleles are associated with a single nucleotide polymorphism (SNP), and the first score differs from the second score representing a change in the transcription factor binding affinity. A statistical significance value of the change in transcription factor binding affinity represented by the first score and the second score is then determined and compared with a threshold to determine whether the SNP is an rSNP. This disclosure also concerns a computer system and a computer program for detecting a regulatory single nucleotide polymorphism (rSNP). |
申请公布号 |
AU2011241468(A1) |
申请公布日期 |
2012.11.01 |
申请号 |
AU20110241468 |
申请日期 |
2011.04.12 |
申请人 |
NATIONAL ICT AUSTRALIA LIMITED |
发明人 |
MACINTYRE, GEOFF;KOWALCZYK, ADAM;HAVIV, IZHAK;BAILEY, JAMES |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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