Socrates – SOft Clip re-alignment To idEntify Structural variants
In collaboration with Dr Jan Schöder and Dr Tony Papenfuss from WEHI, we assisted in testing and developing an algorithm for base-pair resolution identification of structural variation from whole-genome sequencing data.
is-rSNP: in silico regulatory SNP discovery
is-rSNP is a software tool which predicts whether a SNP is a regulatory SNP. For a given SNP, and using a statistical framework, is-rSNP can successfully predict the set of TFs for which binding is affected. The algorithm provides the statistical power to scan large numbers of SNPs, making it suitable to use to screen all associated SNPs output by a typical GWAS.
is-rINDEL: in silico regulatory INDEL discovery
is-rINDEL is a software tool which predicts whether a given INDEL is a regulatory INDEL (rINDEL). For a given INDEL, and using a statistical framework, is-rINDEL can is a useful aid for predicting the set of TFs for which binding is affected. The algorithm provide the statistical power to scan large numbers of INDELs, making it suitable for use to screen all associated INDELs output by a typical GWAS.