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Wellcome Sanger Institute

Researchers from the Wellcome Trust Sanger Institute and elsewhere used deep sequencing to improve on existing estimates for mutation rates in the human genome.

Using SNP and expression microarrays, a team of researchers from Switzerland, the UK, and the US has uncovered cell type-specific differences in regulatory variant function within three different human cell types.

Using whole-genome shotgun sequencing, two different research groups have sequenced the genomes of Schistosoma mansoni and S. japonicum, blood flukes behind the human disease schistosomiasis.

The institute will use the computer resource in its large-scale genomics studies.

Short Reads: May 1, 2009

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News in brief

Moving Target: CNVs in Disease

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More and more research is linking CNVs to disease. It's not only changing the way scientists study disease, but also how clinicians diagnose it.

Progress in Warfarin Dosing

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Researchers have confirmed variants in three genes associated with warfarin dosing. What's the next step?

Short Reads: Apr 7, 2009

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Genome Analysis Centre, University of Barcelona, NIAID, Massachusetts Institute of Technology, J. Craig Venter Institute, University of Maryland, SeqWright, Hologic, BioReference Laboratories, GeneDx, University of Michigan, Genomatix Software, NHGRI

Looking at approximately 326,000 SNPs in 1,053 Swedish subjects, the study is thought to be the first "sufficiently powered" trial to detect genome-wide significance of three SNPs. As a result, study authors note that "additional genes having a major influence on warfarin dose might not exist or be found in the near-term."

In separate interviews, researchers at Baylor College of Medicine, Signature Genomic Laboratories, and the Children's Hospital of Philadelphia recently discussed how new arrays sold by Agilent, Affy, and Illumina affect their cytogenetics services.

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Rady Children's Institute for Genomic Medicine and Deloitte are looking into the use of drones to transport samples for testing. 

Direct-to-consumer genetic testing firm 23andMe is laying off about 100 people.

Researchers from Northwestern University examined dust for antibiotic-resistance genes, New Scientist reports. 

In Science this week: researchers present a computational method for predicting cellular differentiation state from single-cell RNA sequencing data, and more.