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Wellcome Sanger Institute

Using array-based methods, researchers have mapped almost 12,000 potential copy number variants in the human genome and developed reference genotypes for almost 5,000 CNVs.

At the Personal Genomes conference at Cold Spring Harbor Laboratory last week, Illumina chief scientist David Bentley presented results from the company's first cancer genome sequencing project.

Following three pilot projects, results of which are currently being analyzed, the project expects to sequence an additional 985 samples at 4x coverage by early 2010. One of the pilots, designed to test three second-generation sequencing technologies, showed that all three produce data that is suitable for the project.

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


News in brief

Moving Target: CNVs in Disease


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


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


Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.