Saturday, 31 December 2011

Disease genes identified by NGS in 2011

In the last post of the year on our baby NGS blog, I believe it's worth mentioning the survey performed by Dan Koboldt on Massgenomics about the disease-causing mutations discovered by NGS in 2011. Although the numbers are impressive (60 studies linking genetic variation to mendelian disease) to be honest I thought they were even higher.
However, as the author states at the end of his post "one can only imagine what we’ll know by next December, as large federally-funded initiatives ramp up their efforts to systematically apply exome and whole-genome sequencing to inherited disorders".
I'm sure everybody agrees that 2012 will be a very exciting year for Next Generation Sequencing and Personal Genomics.

Happy ...

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