http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286962/
Plus a paper on NF1 breast cancer:
http://www.genetics.org/content/early/2012/07/20/genetics.112.142802.long
Another link to a talk by Dr Topol of Scripps Institute about the barrier to whole genome sequencing. Signing up is free of charge. Please check out the comments:
http://boards.medscape.com/forums?128@@.2a342d7d!comment=1
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