Nov 4, 2014

dbVar has released structural variation (SV) data generated by the 1000 Genomes Project Phase 3 as dbVar study estd214. This large dataset contains SV from 2,500 subjects, and comprises nearly 63,000 variant regions and over 6 million calls, including insertions, deletions, copy number variants (CNVs), mobile element insertions, indels (deletion-insertions), and inversions. The data are available on assemblies GRCh37 (submitted) and GRCh38 (remapped). Genotypes are currently available in VCF.

Nov 3, 2014

dbVar recently released copy number variation (CNV) data from a study on dosage-sensitive genes (PMID: 25217958) that was highlighted in Nature Reviews Genetics. In the study, CNV analysis was combined with protein-truncating single-nucleotide variation (SNV) and targeted resequencing to identify dosage-sensitive genes causing developmental delay.

Oct 30, 2014

A new version (2.2.30) of the stand-alone BLAST executables is now available, bringing several improvements to BLAST+. These improvements include tasks for BLASTX and TBLASTN (blastx-fast and tblastn-fast) that use longer words, as described in Shiryev, Papadopoulos, Schaffer, and Agarwala (2007), as well as support for composition-based statistics in RPS-BLAST. A number of bug fixes, including those for FASTA parsing, are also included.