Genomic Analysis News

Announcing CBMi-Seq Seamless NGS Data Management and Analysis

CBMi-Seq analysis provides primary analysis and management of researchers' next generation sequencing data-from delivery of raw data to sequence assembly, variant detection, annotation, and discovery.

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CBMi Contributes to Article in Blood

The Myc-miR-17-92 axis amplifies B-cell receptor signaling via inhibition of ITIM proteins: a novel lymphomagenic feed-forward loop. CBMi's Pichai Raman contributed to this article published online in Blood October 29, 2013.

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Mitochondrial Disease Signaling Network Discovered

Children’s Hospital researchers recently identified a network of signaling molecules that acts like a “fuse box,” regulating the effects of defective energy flow in mitochondrial respiratory chain diseases — a set of difficult-to-treat genetic-based energy disorders. Using that knowledge, they showed that a form of vitamin B3 partially restores normal functioning in cells taken from patients with mitochondrial disease.

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Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Copy number variants (CNVs) at chromosome 16p13.11 have been associated with a range of neurodevelopmental disorders including autism, ADHD, intellectual disability and schizophrenia. Significant sex differences in prevalence, course and severity have been described for a number of these conditions but the biological and environmental factors underlying such sex-specific features remain unclear.

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Web of Autism Genes Pinpoints Key Players

Hundreds of genes have been linked to autism, but to understand the roles they play – and the ones most likely to eventually lead to treatment – we need to work out how they are connected to one another.

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CBMi Featured in 2012 CHOP Research Institute Annual Report

The Center for Biomedical Informatics is featured in the 2012 Children's Hospital of Philadelphia Research Institute Annual Report.

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