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New Products: Feb 22, 2011

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SoftGenetics has added its STR Human Identity Analysis feature to its NextGene software. The new feature enables human identity profiling from pyrosequencing reads, such as from the Roche 454 GS FLX. The feature was developed in collaboration with Mitchell Holland, director of forensic science at Pennsylvania State University. According to the company, the new feature could enable quicker and more cost effective identity profiling compared to conventional capillary electrophoresis techniques.


GenBank release 182.0 is available here via FTP from the National Center for Biotechnology Information. It contains data as of Feb. 16. The new release comprises approximately 124 gigabases and 132 million entries from non-WGS, non-CON sequences and 190 gigabases and 62 million entries from WGS sequences. Uncompressed, the release requires about 479 gigabases for sequence files only. The ASN.1 data require about 394 gigabases.

The Scan

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.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.