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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.

With the ultimate goal of genotyping 100,000 individuals and following them over time, the Center for Applied Genomics at the Children's Hospital of Philadelphia hopes to use its database not only to better inform its own research, but to make eventually all its data available to the public.

A team of scientists from CHOP and UPenn have developed a database of copy number variants found in healthy individuals, based on their study of thousands of children and parents.


Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.