Genomic Analysis News
CBMi Featured in Nature Article: "De novo mutations in histone-modifying genes in congenital heart disease"
Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. Here we compare the incidence of de novo mutations in 362 severe CHD cases and 264 controls by analysing exome sequencing of parent–offspring trios. CBMi staff contributed to this article published online in Nature May 12, 2013.
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.
CBMi Releases September 2012 Issue of Genome Analysis
The September, 2012 issue of Genome Analysis newsletter provides readers with a view of the latest in next generation sequencing (NGS) and bioinformatics from The Center for Biomedical Informatics at The Children's Hospital of Philadelphia. This issue discusses CBMi's efforts with the Pediatric Cardiac Genetics Consortium (PCGC), the relaunching of the Mitomaster application, a Genome Wowser update and more.
Genome Wowser v2.0 Released on iTunes
Announcing the release of Genome Wowser v2.0, now available in the iTunes store! Currently a top 10 "What's Hot" medical app in the iTunes store!
Genome Wowser Listed in Best Science Apps in Genetic Engineering & Biotechnology News
Genetic Engineering and Biotechnology News lists Genome Wowser as one of the Best Science Apps in the February, 2013 issue of the journal. Check it out here.
CBMi Bioinformatics Core Relaunches Mitomaster with New interface and Functionality
Under the guidance of the Wallace lab at CHOP's Center for Mitochondrial and Epigenomic Medicine, developers in the CBMi Bioinformatics Core have updated and relaunched the Mitomaster tool to add new functionality and a new user interface. Dr. Douglas Wallace will be presenting Mitomaster at the Paris UNESCO conference June 11, 2012.
More Articles...
- Newborn Screening Project Aims to Help Transform Treatments for Genetic Diseases Detected at Birth
- CBMi Contributions: New Gene Study of ADHD Points to Defects in Brain Signaling Pathways
- CBMi, CHOP, Among Recipients of an NHGRI Four-Year Clinical Sequencing Exploratory Research Project Award
- Genome Analysis Newsletter, Vol.3.0. October, 2011
- The Human Genome - Now on the iPad
