November 9, 2012 | With the American Society of Human Genetics conference ongoing in San Francisco this week, there’s been a flood of genomics products and news, announced at the event and elsewhere.
The American College of Medical Genetics and Genomics (ACMG) released an official position statement condemning gene patent monopolies that have allowed some to develop proprietary databases of the clinical meaning of the variants in particular genes. Read more.
CLC bio and the independent software vendor, BioQL, announced the release of the MedQL Variant Prioritizer plug-in for CLC Genomics Workbench. The plugin connects with MedQL’s online database to prioritize a list of variants in gene regions based on their degree of association with a given phenotype. Press Release
A team of computational biologists and clinical geneticists from the Brigham and Women’s Hospital in Boston has won the inaugural CLARITY Challenge to identify and present the putative mutations underlying the rare disorders of three children or infants who have received care at Boston Children’s Hospital and had their full genomes sequenced. Read more.
Two of the CLARITY finalists— CeGaT and Genomatix—are extending the CLARITY mission. The two will offer their complete genomics analysis service to another six families for free. Genomatix also announced the pre-release of geneGrid, a web application designed to help medical researchers identifying pathogenic genomic variations in humans. Hospitals and doctors who are interested in registering patients for this project will find more information on the CeGaT website (www.cegat.de). Press release.
Caris Life Sciences has selected Illumina’s MiSeq sequencing system to support Caris’ evidence-based molecular profiling service. The MiSeq system will be deployed to enable rapid, simultaneous analysis of multiple genes from formalin-fixed, paraffin-embedded (FFPE) tumor tissues using Illumina’s amplicon-based assay. Press Release
Researchers at Cypher Genomics will incorporate BIOBASE’s knowledgebase in Genome Trax to assist in their interpretation of next generation sequencing variants to provide rich genomic knowledge from sequencing data. Press Release
Partek has listed Partek Flow in BaseSpace Apps, Illumina’s dedicated applications store and informatics community dedicated to advancing genomic analysis. Partek Flow is utilized for multiple next generation sequencing applications including RNA-Seq, small RNA-Seq, exome, and targeted sequencing. It provides a single web-based environment to carry out multiple tasks, which can be executed an unlimited number of times on an unlimited number of samples. Press Release