METHOD AND SYSTEM FOR DETECTING REGULATORY SINGLE NUCLEOTIDE POLYMORPHISMS
摘要
<p>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).</p>
申请公布号
WO2011127527(A8)
申请公布日期
2011.12.15
申请号
WO2011AU00420
申请日期
2011.04.12
申请人
NATIONAL ICT AUSTRALIA LIMITED;MACINTYRE, GEOFF;KOWALCZYK, ADAM;HAVIV, IZHAK;BAILEY, JAMES
发明人
MACINTYRE, GEOFF;KOWALCZYK, ADAM;HAVIV, IZHAK;BAILEY, JAMES