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Posts Tagged ‘Genetic testing’

kermmarb

[link to research article on loss-of-function variants in the human genome]

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… but not like this.  Try openSNP.

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when you realize that the genetic risk of that allele you carry was calculated using a small population from south-western-upper-middle-eurasia-stan … and doesn’t really apply to your individual situation.

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Perhaps just a little bit.  One Law Professor’s experience.

“As it happens, … It turned out that I had a genetic variant that implied a moderately increased risk of meningioma, the second most common type of brain tumor.

The information came a little late to be useful. Last summer, … found me half conscious on the floor. The diagnosis at the local hospital was meningioma, a benign (i.e. non-cancerous) tumor inside my skull but fortunately outside my brain.”

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Having some fun here learning to visualize data using Processing.  Here is a map showing the relative number of genetic testing laboratories.  California is listed with the most (35 labs).  *Note, these are genetic testing laboratories which may service a wide range of health care providers and clinics.

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Thinking of bragging about the large size of your brain-function genes?

Brain-function genes can be very large.  Genetic variation – specifically, copy number variation (CNV) – is often found in brain-function genes in populations with mental disability … but … not much more often than in healthy populations.

To demonstrate the potential impact of confounders, we genotyped rare CNV events in 2,415 unaffected controls with Affymetrix 6.0; we then applied standard pathway analyses using four sets of brain-function genes and observed an apparently highly significant enrichment for each set. The enrichment is simply driven by the large size of brain-function genes.

The full story and a new statistical test – that aims to control for this confounding effect of large brain-function genes.  More on chromosomal structural variation and schizophrenia here.

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THE ultimate guide to your genome … ‘nuf said.

The mission of the Encyclopedia of DNA Elements (ENCODE) Project is to enable the scientific and medical communities to interpret the human genome sequence and apply it to understand human biology and improve health. The ENCODE Consortium is integrating multiple technologies and approaches in a collective effort to discover and define the functional elements encoded in the human genome, including genes, transcripts, and transcriptional regulatory regions, together with their attendant chromatin states and DNA methylation patterns. In the process, standards to ensure high-quality data have been implemented, and novel algorithms have been developed to facilitate analysis. Data and derived results are made available through a freely accessible database. Here we provide an overview of the project and the resources it is generating and illustrate the application of ENCODE data to interpret the human genome.

 

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