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.
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.
DNAPrint, Laboratory Corporation of America, Duke University, Lab21, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Diseases and Stroke, and more …
