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SNPs filtration and Prioritization

nuglozehnuglozeh Saudi ArabiaMember

I have run Exome sequencing on 12 patients suffering from Renal failure. A bioinformatics team analyzed the sequencing data and generated a sheer load of SNPs and INDELS approximately (4000/patient) classified as: High, moderate and low priorities. I saw a manuscript published in South Korea where they did a similar work and they used R algorithm merged with the Excel sheet data and generated a very short list of variants. In my recollection, they started with 50 and narrowed it down to 5. Does anyone know a similar method or another method I can use to generate a short list of candidates that I can validate with Sanger? My problem here I cannot find that publication online. In case somebody has that publication or similar one, can you give me link to that publication.



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