Category: "Genomics"

Cystic Fibrosis and its Analysis

June 17th, 2015
Cystic Fibrosis, also called Mucoviscidos, is a hereditary disease (autosomal recessive) in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling. It affects up to one… more »

Chromosome lengths

March 20th, 2013
Here is a quick list of the sizes of human chromosomes in assembly GRCh37 as defined by Ensembl: chrom length [bp] 1 249,250,621 2 243,199,373 3 198,022,430 4 191,154,276 5 180,915,260 6 171,115,067 7 159,138,663 8 146,364,022 9 141,213,431 10… more »

ENCODE publication interview

October 1st, 2012
Following on from the publication of the main papers of the ENCODE (Encyclopedia Of DNA Elements) scale-up phase, here are a few key points about the project and the results. more »

Analysing Variation with Ensembl and PolyPhen

May 28th, 2012
The Ensembl variation resources provide information about structural variants and sequence variants (including Single Nucleotide Polymorphisms (SNPs), insertions, deletions and somatic mutations in the human genome. more »

Sequence Mappability & Alignability

May 16th, 2012
Sequence uniqueness and the possbility to map sequence parts (e.g. NGS short reads) back to a genomic region... The CRG Alignability tracks display how uniquely k-mer sequences align to a region of the genome. For each window (of sizes 36, 40, 50, 75… more »