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Cambridge Healthtech Institute, Wellcome Trust Sanger Institute

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Cambridge Healthtech Institute’s Insight Pharma group has published “Next-Generation Sequencing: Scientific and Commercial Implications of the $1,000 Genome,” a market research report on next-generation sequencing technologies and their applications. The report covers technologies on the market or under development by Applied Biosystems, GE Healthcare, Helicos BioSciences, Illumina, Reveo, Roche/454 Life Sciences, VisiGen Biotechnologies, and others. It also includes the results of a survey of researchers at life science organizations involved with gene sequencing. 
 

 
The Wellcome Trust Sanger Institute’s Cancer Genome Project has released version 32 of the COSMIC (Catalog of Somatic Mutations in Cancer) database. COSMIC release 32 includes four new tumor suppressor genes and improved integration with the Ensembl genome browser. It includes information from 521,624 experiments, 235,207 tumors, 3,304 genes, and 445 fusions. 

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.