CytoGnomix has released the Shannon human splicing pipeline, a plug-in for CLC Bio's Genomics Workbench that is used to interpret genomic variants that alter mRNA splicing.
The tool analyzes exome, targeted sequencing, or whole-genome data and categorizes variants based on whether they fully or partially inactivate natural splice sites or whether they activate cryptic sites proximate to exons or within them. It can be deployed on the CLC Genomics workbench either as a standalone application or to the CLC Genomics server using the Genomics Workbench client.
The National Center for Biotechnology Information has released GenBank 192.0 via ftp.
Uncompressed 192.0 flatfiles require roughly 569 gigabytes for sequence files only; or 612 gigabytes to include the short directory, index, and text files. The ASN.1 data require approximately 465 gigabytes.