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 (…)

COSMIC rev54 (now 55 since a couple of days) DL as a text table I had to convert to BED with some perl magic (

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:]). 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

Breast Cancer Datasets



Copy-number variations (CNVs)—a form of structural variation—are alterations of the DNA of a genome that results in the cell having an abnormal number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted (fewer than the normal number) or duplicated (more than the normal number) on certain chromosomes. For example, the chromosome that normally has sections in order as A-B-C-D might instead have sections A-B-C-C-D (a duplication of “C”) or A-B-D (a deletion of “C”). Source:

Synonymous and Non-Synonymous SNPs

To be a synonymous or a non-synonymous SNP, the SNP must fall inside a protein-coding region of the DNA (otherwise it is a noncoding SNP). A synonymous SNP is a coding SNP that does not change the protein sequence. A non-synonymous SNPT is one that changes the protein sequence. So what you have to check is if the SNP changes a codon to a different codon for the same amino acid, in which case it is a synonymous SNP, or if it changes the codon to one that codes for a different amino acid, in which case it is a non-synonymous SNP.






Cluster Commands and Tricks 06/09/11

Every node has 8 cores 16GB of RAM

Useful Commands for the cluster:

List Queues and times of execution

scontrol show partitions

List Jobs


Cancel Job (jobid)

scancel -v 179

List nodes status


Submit a process

srun -p long|medium|shot| -w veredas17 -o output_file COMMAND
Example of a command:
srun -p medium -o piccard java -jar ../../bin/picard-tools-1.52/SamFormatConverter.jar INPUT=../alignment/aln.sam OUTPUT=exome.bam VALIDATION_STRINGENCY=LENIENT TMP_DIR=/tmp