Notes

DATASETS from :references for SIFT, PolyPhen, annovar

OMIM variants extracted by Omicia and provided as a track (OMICIA_auto) on the next release of UCSC tables (http://genome-preview.ucsc.edu/…)

COSMIC rev54 (now 55 since a couple of days) DL as a text table I had to convert to BED with some perl magic (ftp://ftp.sanger.ac.uk/pub/CGP/cosmic)

dbSNP was not an easy catch and I am still struggling to get the full information from their difficult batch download system (only feasible through ensembl BIOMART so far: [tip: hg18 BIOMART is at:http://may2009.archive.ensembl.org/biomart/martview/]). For dbSNP, I searched for records with phenotype (thanks to another colleague) which is the only available annotation to pick disease variants but in fact includes many association results which are far from being causative .

Cancer Datasets

http://www.broadinstitute.org/cgi-bin/cancer/datasets.cgi

Breast Cancer Datasets

http://bioinformatics.nki.nl/data.php

 

raony