Update Thursday, April 29, 2010: See further commentary at a newer post here. Just finished reading Jon McClellan and Mary-Claire King's Genetic Heterogeneity in Human Disease essay in Cell. It's definitely one of the most forthright and compelling essays I've read on the subject of the inadequacy of GWAS for identifying genes that cause complex human disease. The essay starts with an evolutionary perspective.
Check out this review essay in Cell: Genetic Heterogeneity in Human Disease, by Jon McClellan and Mary-Claire King. (King's lab, incidentally, was the group who discovered via linkage analysis that the gene for early-onset breast and ovarian cancer on chromosome 17q21, nearly 5 years before Myriad Genetics filed for patent protection on the BRCA1/2 genes). Anyhow, looks like a great review on genetic heterogeneity and GWAS. Thanks @JVJAI.
This month's cancer biostatistics workshop on overfitting will be given by Fei Ye and Zhiguo (Alex) Zhao, both in the Department of Biostatistics and the Cancer Biostatistics Center. This looks like a good one, especially after attending Frank Harrell's regression modeling strategies course a few weeks ago. See the link below for the full 2010 series.
Our Program in Computation Genomics Journal Club is starting again, now the 3rd Friday of each month. The next meeting is this Friday, April 16, at 3pm in the CHGR conference room. As usual, please bring in any articles you've found recently and give a brief overview of why you thought it was interesting.
I recently did an analysis for the eMERGE network where I had lots of individuals from a small town in central Wisconsin where many of the subjects were related to one another. The subjects could not be treated as independent, but I could not use a family-based design either. I ended up using a mixed model approach using previously mentioned GenABEL.
I've been using GenABEL for some time now for GWAS analysis using related individuals. It has an excellent set of functions for estimating a kinship matrix from a dense marker panel and then using this in a linear mixed effects model to allow for related individuals in the analysis of a quantitative trait.
A short announcement - my friend, colleague, running partner, and GGD contributor Will Bush is now an assistant professor in the Department of Biomedical Informatics, and investigator in the Center for Human Genetics Research here at Vanderbilt.Getting Genetics Done by Stephen Turner is licensed under a Creative Commons Attribution (CC BY) License.
The previously mentioned Regression Modeling Strategies short course taught by Frank Harrell is nearly over. Here are the handouts (PDF) from the course. Keep an eye out here, I'll be writing a few more posts in the near future on topics Frank covered in this course.Getting Genetics Done by Stephen Turner is licensed under a Creative Commons Attribution (CC BY) License.
A new paper in Nature by the Wellcome Trust Case Control Consortium examining 16,000 cases of 8 common diseases and 3000 shared controls finds that common CNVs probed on existing arrays are well tagged by SNPs and are unlikely to contribute much to common human disease.
A District Court handed down a summary judgment invalidating most of Myriad's claims to both the BRCA1 DNA sequence and the method of testing for early-onset familial breast and ovarian cancer. See Genetic Future and Genomics Law Report for analysis.Getting Genetics Done by Stephen Turner is licensed under a Creative Commons Attribution (CC BY) License.