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Short Reads: Apr 1, 2012


The Obama Administration's proposed 2013 budget would provide flat funding for the National Institutes of Health. The National Human Genome Research Institute's funding would be cut by $1 million to $511 million, while the new National Center for Advancing Translational Sciences would receive an increase of $64 million to $639 million.

Researchers at Brigham and Women's Hospital and the University of Michigan School of Public Health will work with consumer genetics companies 23andMe and Pathway Genomics to study how consumers view, and are affected by, genetic tests and their results.

The Jackson Laboratory has hired Yijun Ruan for its new genomic medicine center at the University of Connecticut Health Center in Farmington. Ruan is currently associate director of the Genome Institute of Singapore and a biochemistry professor at the National University of Singapore. He will bring up to six members of his team to the Connecticut facility.

The US National Heart, Lung, and Blood Institute said it plans to fund research to characterize genes and genetic variants linked to lung diseases. NHLBI will fund projects to delve into genes and variants identified through GWAS, it said.

NIH has launched its Genetic Testing Registry, a new Web resource aimed at providing consumers and healthcare workers with information about genetic tests currently on the market.

Washington University School of Medicine in St. Louis has announced plans to provide free exome sequencing for 99 patients suffering from rare disorders, in an effort to discover genetic factors that may be causing these diseases. Through the Rare99X Clinical Exome Challenge project, WashU will work with patient groups to study patients with some of the nearly 7,000 rare diseases affecting an estimated 25 million Americans.

At the Advances in Genome Biology and Technology meeting in February, Oxford Nanopore Technologies announced that it plans to commercialize two DNA strand sequencing instruments this year: a higher-throughput version that uses its GridIon platform, and a disposable MinIon system the size of a USB memory stick.

A bill in the US House of Representatives, called the Research Works Act, has been pulled by its sponsors. The bill would have nullified existing and proposed federal policies requiring that government-funded research data be published in open-access manner.

A group of international institutes has joined together to launch the Instruct Integrating Biology — or INSTRUCT — initiative, organized by the European Union's European Strategy Forum of Research Infrastructures program, to provide access to resources for structural biology research to scientists across Europe and in Israel.

An international team led by investigators at the Wellcome Trust Sanger Institute has sequenced the gorilla genome, published in Nature in March.

The Novo Nordisk Foundation Center for Protein Research at the University of Copenhagen has hired Jiri Lukas as director. Lukas is currently head of the Centre for Genotoxic Stress Research at the Danish Cancer Society. The protein science center launched in 2007 and is now preparing to expand.

Researchers at the University of Virginia School of Medicine and the University of North Carolina at Chapel Hill published a study in Science on their identification of tens of thousands of short extrachromosomal circular DNAs in mouse tissues and human cell lines. These 200- to 400-base pair long microDNAs are derived from unique non-repetitive sequences, and their generation "leaves behind deletions in different genomic loci," the researchers write.

Researchers in the US and Guatemala have identified an influenza A virus with a new genetic lineage that has been infecting a fruit-eating bat species from Central and South America. Through genome sequencing and phylogenetic analyses, the team found that the bat flu virus, dubbed influenza A sub-type 'H17,' is divergent from other influenza A viruses at a number of key genes.

New Zealand-based genomics software developer Biomatters has tapped Karin Fredrikson to be its vice president for US operations.

Jan Bertsch has been named executive vice president and chief financial officer at Sigma-Aldrich. Interim CFO Kirk Richter remains the company's VP and treasurer.

Complete Genomics has formed a genomic medicine advisory board to "provide insight and guidance on the best ways for the company to provide sequencing services to healthcare organizations and physicians interested in implementing genomic medicine in their practice," the company said in a statement.

Arizona State University has appointed geneticist Kenneth Buetow to be director of the Computational Sciences and Informatics program under the Complex Adaptive Systems Initiative.

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.