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CHOP

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.

New genetic studies suggest that SNPs and CNVs affecting neuronal cell adhesion — including one SNP that reached genome-wide significance in a large GWAS study — contribute to autism risk.

Five new centers will begin educating and recruiting volunteers for the massive NICHD-led study of genes, environment, and children's health.

In the first phase of the three-part pilot program, three projects will be chosen from 10 institutions in the Philadelphia region, Delaware, and New Jersey to receive one-year grants worth as much as $200,000 for proof-of-concept studies.

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.

Snippets: Mar 4, 2009

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Researchers have developed a robotic lab assistant, the Verge reports.

CBC News reports Canada's Supreme Court is to rule on the constitutionality of the country's genetic non-discrimination law today.

The Associated Press reports the World Health Organization is sending experts to China to investigate the animal source of SARS-CoV-2.

In Science this week: atlas of affected cell populations in idiopathic pulmonary fibrosis, and more.