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Paired Ends: Feb 1, 2011

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Julia Dan, Paul Tu, Joyce Peng

Researchers from China, Denmark, and the UK used high-throughput sequencing to identify and characterize methylation sites in mononuclear peripheral blood cells from an Asian man whose genome was sequenced for a previous study.

BGI and OpGen believe that OpGen’s optical mapping technology will complement next-generation sequencing in order to "enable the efficient and accurate finishing of assembled contigs into chromosomes."

Researchers presented an outline of the project goals and methods at the American Society for Human Genetics meeting last week. The scientists are currently analyzing the data and hope to obtain first results within a few months.

At the ASHG meeting in Washington, DC, researchers from the LuCAMP consortium described their exome sequencing and genotyping approach for finding lower frequency variants linked to conditions such as type 2 diabetes and heart disease.

After a human genome collaboration, the US firm will continue its work with BGI to use optical mapping to finish de novo sequencing for more genome analysis projects.

Li Jingxiang, vice president of genomics operations for BGI, said in a statement that the SOLiDs will enable the institute to "secure sequence data for a complete whole human genome on 30x coverage that includes 100 gigabases of mapped data at an accuracy of 99.9 percent."

The acquisition will allow BGI to sequence 50 whole genomes a month, the partners said.

The study, whose results lend support to the rare variant hypothesis of disease, is part of a larger collaboration between BGI and the University of Copenhagen that will use exome sequencing to study metabolic disease.

By the end of the year, BGI expects to generate 5 terabases worth of sequence data per day. Its Hong Kong location, which handles international samples, will be outfitted with at least 100 Illumina HiSeq 2000 machines and 20 Applied Biosystems SOLiD instruments, while the Shenzhen facility, which focuses on domestic projects, will have 37 HiSeqs and between 5 and 10 SOLiDs.

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The Guardian reports that some UK physicians are calling for increased regulation of direct-to-consumer genetic tests.

US tax agency says 23andMe's genetic health test can be claimed as a medical expense for tax purposes, the Wall Street Journal reports.

Two Democratic lawmakers argue at USA Today that independent science is under attack by the Trump Administration.

In PLOS this week: networks of genes co-expressed in depression, role of minichromosome maintenance genes in lung adenocarcinoma, and more.