Method and system for detecting regulatory single nucleotide polymorphisms

Geoff Macintyre (Inventor), Adam Kowalczyk (Inventor), I. Haviv (Inventor), James Bailey (Inventor)

Research output: Patent

Abstract

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).
Original languageAmerican English
Patent numberUS20130138353 A1
StatePublished - 2011

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