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Wellcome Trust Sanger Institute, Roche, Applied Biosystems

The Wellcome Trust Sanger Institute’s Cancer Genome Project has released version 28 of the COSMIC (Catalog of Somatic Mutations in Cancer) database. The release includes 26 new studies, including 1,033 new genes. The database now includes data on 455,765 experiments, 204,457 tumors, and 2,671 genes.

Roche has released the LightCycler 480 High Resolution Melting Master, a close-tube post-PCR method for analyzing genetic variations in PCR amplicons prior to, or as an alternative to, sequencing, the company said.
According to Roche, the 480 High Resolution Melting Master offers “significantly higher” speed and lower cost than current gel- and gradient-based methods such as SSCP and dHPLC.
The method includes a generic dye that binds to DNA without preference for certain regions or conformations. The dye is chemically different from other high-resolution melting dyes like Idaho Tech’s LC Green Plus or Invitrogen’s SYTO9, Roche said. It works at approximately ten-fold lower concentrations than other dyes and can be used in a PCR master mix without interfering with PCR performance, Roche said.

Applied Biosystems has released two new application-specific master mix reagents for real-time PCR: the TaqMan Gene Expression Master Mix and TaqMan Genotyping Master Mix.
The TaqMan Gene Expression Master Mix is designed for use with TaqMan gene expression assays and enables the detection of a single copy of target nucleic acid present in a sample, “even if that target is a poorly or rarely expressed gene,” ABI said.
The TaqMan Genotyping Master Mix is designed for use with TaqMan SNP genotyping assays, and helps researchers generate data “with distinct well-separated clusters of different sequence variants.”

ABI has also released VeriFlex Blocks, a temperature-control technology that is expected to increase the accuracy and efficiency of PCR. The VeriFlex Blocks technology is being introduced in the company’s new Veriti 96-well thermal cycler and is expected to help researches “rapidly find optimal reaction temperatures and accurately perform simultaneous mixed-temperature reactions,” ABI said.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.