Transforming "personalized genomics" from party hype into clinical action requires disruptive computational innovation that is based within the heart of the health care enterprise. That is why I recently elected to join the Department of Pathology at Beth Israel Deaconess Medical Center to help launch a new program in Genomic Pathology.
The Wall Lab's Blog at Harvard Medical School
We have a job opening for a project manager to help orchestrate efforts associated with our autism research, in particular the Autworks web portal. Please contact us if you are interested. Competitive salary, great working environment, and an opportunity to contribute to an important cause -- the search for the genetic causes of autism.
A study published in PLoS ONE conducted CNV analysis on Autism patients [van der Zwaag et al., 2009]. While there are other similar analyses, the noteworthy points in this one are:
1) In addition to the control group, the patients are divided into two groups, complex-autism group where patients have both autism and other neurological disorders, and non-complex-autism group.
2) Significant CNVs were inferred between the non-complex and control group.
3) Among genes located in those CNVs, there is an over-representation of those involved in glycosylation.
Here is a short evaluation I wrote for f1000. It briefs a recent paper in Science titled "Differential arginylation of actin isoforms is regulated by coding sequence-dependent degradation" by Zhang et al.