- Francisco Azuaje, CRP-Santé
- Struan Grant, Children's Hospital of Philadelphia
- Patrick Tan, Graduate Medical School Singapore
- Pearlly Yan, The Ohio State University
- Tim Sands , BioMed Central
Validation of an existing prostate cancer gene expression profile has identified two groups, associated with good or poor prognosis, rather than the previous four 4 subtypes, and highlights the importance of taking sample tissue composition into account.
A combination of time-lapse monitoring of morphokinetic markers and array-CGH testing, results in improved rates of implantation and ongoing pregnancy for patients undergoing preimplantation genetic screening (PGS) over those in conventional incubators.
A meta-analysis of brain studies shows that although a small proportion of eQTLs would be discovered by using blood as a surrogate for brain tissue, overlapping eQTLs are functionally similar, so neurological and psychiatric studies using blood still have value.
A meta-analysis of expression profiling and GWAS datasets in psoriasis, finds half the differentially expressed genes most highly expressed in skin cells, whereas GWAS candidates were most expressed in immune cells, particularly neutrophils.
A new program, PhenoVar, implements a phenotype-driven analysis of encrypted exome data in genetic diagnosis, circumventing some of the consent and ethical problems with incorporating exome sequencing in to the clinic.
News from the web
- 07 February 2014
- The undiscovered chromosome
BMC Medical Genomics is an open access, peer-reviewed journal that considers articles on all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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Following posts in the UK, Australia, Iceland and Germany, Struan Grant has been the Associate Director of the Center for Applied Genomics at the Children's Hospital of Philadelphia since 2006. His current work focuses on metabolic disease, with a specific focus on pediatrics. Utilizing high-throughput genotyping technology, his goals include isolating genes involved in obesity and bone strength. Both of these phenotypes are known to be strongly determined by genetic factors and distillation of this component should be easier to determine in children, where the relatively short period of their lifetime limits the impact of environmental exposure.
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Volume 7 Suppl 1 (8 May 2014)
Seoul, Korea. 2-4 October 2013