News

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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CBMi Informatics Fellow Levon Utijian Contributes to AAP Article

CBMi's Clinical Informatics fellow Levon Utijian contributed to the article "Clinical Informatics: Bridging the Gap Between Physician and Information Technology" in the American Academy of Pediatrics Section on Anesthesia and Pain Medicine Fall Newsletter.

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CHOP’s Harvest Toolkit Offers Innovative Data Discovery Resource

A team of informatics experts and biomedical researchers at The Children’s Hospital of Philadelphia (CHOP) offers a new software toolkit to help researchers wrangle data. Their open-source, highly interactive framework called Harvest (http://harvest.research.chop.edu) is designed to let users to navigate quickly among different types and levels of data.

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Post-Bac Health Informatics Certificate - An Educational Collaboration with Temple University

The Center for Biomedical Informatics and Temple University's Department of Health Informatics Management, are offering a the Post-Baccalaureate Health Informatics Certificate.

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Survey of Informatics Approaches to Whole-exome and Whole-genome Clinical Reporting in the EHR

Genome-scale clinical sequencing is being adopted more broadly in medical practice. The National Institutes of Health developed the Clinical Sequencing Exploratory Research (CSER) program to guide implementation and dissemination of best practices for the integration of sequencing into clinical care. CBMi staff contributed to this article published online in Genetics in Medicine September 26, 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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Effectiveness of Decision Support for Families, Clinicians, or Both on HPV Vaccine Receipt.

Despite proven health benefits, human papillomavirus (HPV) vaccination rates are among the lowest of all routine immunizations. No previous large-scale trial has compared the benefit of automated decision support directed at clinicians, families, or both in any context.

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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's Stacey Wrazien Wins REDCap 'Interesting Use Case' for Second Year in a Row

CBMi's Stacey Wrazien was selected as one of three winners for "Interesting Use Case' at REDCap Day 2013. Her presentation "The Data Almanac" a web application that allows users to create, collect, and track standards associated with electronic case report forms.

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