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Omicia, which co-developed VAAST with Mark Yandell’s group at the University of Utah, is now working on integrating the algorithm into a platform called the Genome Analysis System, which it plans to release commercially at the end of the third quarter.

By identifying inherited, rare copy number variants specific to families affected by autism spectrum disorders, researchers have identified several biological pathways that may contribute to the disease.

Through a meta-analysis of gene-centric genotype data on more than 100,000 individuals, an international research team has identified common and relatively rare genetic variants associated with human height.

Paired Ends: Nov 30, 2010


Vivian Cheung

By genotyping more than 1,000 individuals with anorexia nervosa and almost 4,000 unaffected controls, researchers have identified common SNPs and rare CNVs that appear to be linked to the condition.

While the findings could have implications for other common diseases, in particular neurological disorders such as autism or schizophrenia, several scientists say it is unlikely that rare mutations play an equally large role in common diseases with late onset, where natural selection has had a different effect.

Researchers from the Children's Hospital of Philadelphia and elsewhere have identified a handful of copy number variants that are associated with obesity in European American and African American children.

Recently, the center started to bring in high-throughput sequencing, purchasing 15 Applied Biosystems SOLiD sequencers from Life Technologies — a mix of SOLiD 4 and 4hq — which will all be installed by the end of the year.

While they acknowledge that genome-wide association studies have been effective in finding common variants associated with human disease, the researchers caution in a new PLoS Biology paper that rare, undetected variants may underlie those associations.

Unlike other CNV databases, the CHOP resource contains only data from healthy individuals who were screened with a single microarray platform. Because of this, researchers can use CHOP's data as controls in their search for pathogenic variants, its developers said.


A small, early-stage trial of a combination therapy for brain cancer reports favorable responses in two patients, according to the Guardian.

Nature News writes that viral genomic surveillance in the US faces systemic issues.

President Joe Biden is seeking an increase in federal spending, including higher budgets for the National Institutes of Health and Centers for Disease Control and Prevention.

In PLOS this week: sex-stratified genome-wide association study of chronic pain, sequencing data from Indigenous Mexican groups, and more.