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Downloads & Upgrades: Jul 22, 2011

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SoftGenetics has released Mutation Surveyor 4.0, its software for DNA variant analysis for Sanger sequence data.

The latest version release incorporates a new multistep alignment technology that reduces false positive rates and allows users to process noisy data. Additionally, the single analysis batch capability has been increased from its former limit of 400 sequence traces to 2,000 sequence traces per analysis.

Furthermore, the tool now accepts mitochondrial forensic nomenclatures of insertions and deletions; includes exon information in GBK references files; reports accession numbers; aligns sequences across circular genomes; and lets users create, save, and export custom GenBank references.


IDBS has launched E-WorkBook Suite 9.1, the newest release of its electronic laboratory notebook.

In this release, the ELN is now available as a web-based client and the E-WorkBook biology and chemistry extensions — BioBook and ChemBook — have been enhanced to provide additional chemistry and regulatory compliance functions, improved functionality for parallel synthesis, and multi-step reactions to support those working in process, medicinal, and analytical chemistry as well as fine chemicals.


RefSeq Release 48 is now available via FTP.

This release incorporates genomic, transcript, and protein data available as of July 10, and includes 18,162,534 records, 13,116,724 proteins, 2,634,630 RNAs, and sequences from 12,235 different organisms.


Version 2.2 of the GeneMania Cytoscape plugin and command line tools is now available.

The release includes numerous bug fixes in the QueryRunner, Cross Validator, NetworkAssessor, and NetworkImporter tools and several new features including functional enrichment descriptions for node attributes and support for both JSON and text formats when importing search parameters from the GeneMania website.


The Scan

Y Chromosome Study Reveals Details on Timing of Human Settlement in Americas

A Y chromosome-based analysis suggests South America may have first been settled more than 18,000 years ago, according to a new PLOS One study.

New Insights Into TP53-Driven Cancer

Researchers examine in Nature how TP53 mutations arise and spark tumor development.

Mapping Single-Cell Genomic, Transcriptomic Landscapes of Colorectal Cancer

In Genome Medicine, researchers present a map of single-cell genomic and transcriptomic landscapes of primary and metastatic colorectal cancer.

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.