Test-drive the GATK tools and Best Practices pipelines on Terra
Check out this blog post to learn how you can get started with GATK and try out the pipelines in preconfigured workspaces (with a user-friendly interface!) without having to install anything.
SNPs filtration and Prioritization
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.