Monday, February 28, 2011

Genomics: In search of rare human variants

This paper makes a very good reading. Besides that following are the few concepts that caught my imagination...

Missing Heritability:
obesity, diabetes and cardiovascular disease — are known to have a strong genetic component, their associated genomic variants detected through GWAS cannot explain most of the experimentally identified genetic effects found in affected families. Human geneticists call this problem the 'missing heritability'. Missing heritability may be due to very rare variants rather than the common ones discovered by GWAS.
Since GWAS misses out most of the common variants and sequencing thousands of individuals is going to be rather very expansive, a new concept is now getting rounds that is called as Imputation. Imputation is defined as 'inventing data' for some individuals depending on data available for other individuals[see the figure below].


 Remember: IT HAS ALWAYS BEEN AND IT STILL IS AN RNA EARTH LIFE.


Ref  [Rasmus Nielsen
Nature Volume: 467,Pages: 1050–1051 Date published: (28 October 2010)
DOI: doi:10.1038/4671050a]
A very good read...

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