540:. They performed a genome-wide association study comparing the genomes of 1032 patients and 2043 controls. The researchers found a significant association between neuroblastoma and a region of chromosome 6. In 2009, the Center performed another genome-wide association study that focused on a 397-person high-risk subset of the neuroblastoma group. In 2009, the Center contributed another study identifying copy number variations (CNVs) as a potential cause of neuroblastoma. The study was the first germline CNV study in any cancer.
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on a group of 780 families (3,101 individuals) with affected children, a second group of 1,204 affected individuals, and 6,491 controls, all of whom had
European ancestry. By comparing genomics variations between the groups, researchers identified six genetic markers between two specific genes that
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In 2010, the center published a genome-wide association study of 3,377 children with asthma and 5,579 healthy children. Researchers discovered a region on chromosome 17 and a previously unassociated region on chromosome 1 that strongly correlated with susceptibility to asthma.
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In 2008, the Center proposed a strategy for examining the disorder by focusing on age-of-onset. To this end, they carried out a genome-wide association study of 1,011 individuals with pediatric-onset IBD and 4,250 matched controls. In a subsequent paper, the Center applied
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confirmed susceptibility to ASDs. In 2009, the Center published a second paper in the journal Nature that identified copy number variations (CNVs) as genetic features in autism based on the study of 859 autism cases and 1,409 healthy children of
European ancestry.
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BeadArray System and utilizes both the
Infinium and GoldenGate analytical methods. The center's equipment includes multiple Tecan hardware systems and scanning instruments with integrative Laboratory Information Management System (LIMS). It uses several
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As one of the world's largest genetics research and analytical facilities, the Center for
Applied Genomics has processed genetic samples from over 100,000 people due to its access to high-throughput genotyping technology.
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In 2009, the center also published a genome-wide association study of inflammatory bowel diseases (Crohn's disease and ulcerative colitis) in 3,426 affected individuals and 11,963 genetically matched controls.
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to perform whole-genome analysis â microarrays are slides consisting of thousands to millions of tiny probes. They allow researchers to screen an individual's genome for huge numbers of genetic markers called
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In 2007, researchers performed a genome-wide association study in a large pediatric group that identified a previously unknown association between type 1 diabetes and a genetic variation on chromosome 16.
502:) have been difficult to pinpoint. The group found 222 CNVs that were more common in individuals with ADHD than in unrelated healthy individuals and published a paper on the findings.
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The Center for
Applied Genomics is a Center for Emphasis at the Children's Hospital of Philadelphia
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In a genome-wide association study of 1,735 schizophrenic patients and 3,485 healthy adults.
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Proceedings of the
National Academy of Sciences of the United States of America
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Imielinski M, Baldassano RN, Griffiths A, et al. (December 2009).
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Kugathasan S, Baldassano RN, Bradfield JP, et al. (October 2008).
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Kanetsky PA, Mitra N, Vardhanabhuti S, et al. (July 2009).
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946:"Copy number variation at 1q21.1 associated with neuroblastoma"
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Sleiman PM, Flory J, Imielinski M, et al. (January 2010).
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In 2009, Center for
Applied Genomics researchers identified
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Maris JM, Mosse YP, Bradfield JP, et al. (June 2008).
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Glessner JT, Reilly MP, Kim CE, et al. (June 2010).
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Wang K, Zhang H, Kugathasan S, et al. (March 2009).
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Diskin SJ, Hou C, Glessner JT, et al. (June 2009).
693:"Variants of DENND1B associated with asthma in children"
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In 2009, in collaboration with the
Nathanson Lab at the
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findings in the development of new medical treatments.
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Capasso M, Devoto M, Hou C, et al. (June 2009).
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Glessner JT, Wang K, Cai G, et al. (May 2009).
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96:neutral point of view
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630:References
600:Affymetrix
596:genotyping
585:Technology
376:, Director
369:Key people
268:April 2023
252:improve it
176:newspapers
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39:improve it
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