The building blocks of life 1% exome = 21.000 building block genes 14.000 meaning 3.500 disease
ENCODE :1% real parts – 79% - 99% instructions
Soon, essentially for free X 1.000
Personal genome analysers
Opportunities vs Challenges
Cancer:Collection of rare diseases of the genome
Cancer drugs get personal Treatment ‘V600E BRAF’
Fetal sequencingfrom 1 drop mom’sbloodNo more invasive testingIDs 3.500 disease/all
But can we handle ourpersonal genome ?
Incidental findingsto report
How many ‘personal genomes’ around?250.000+ 106K = 0,03%25.000+ Whole exome = 1%2.500+ Whole genomecf 1.000.000.000 accounts
Time for some introspection‘Typical odds’ not Could loose eyesight – being bald but when? Detailed numbers of SNPs Nr Number of SNPs in exome 22247 Number of missense mutations 10617 Number synonymous mutations 11121 Gain of stop codon mutations 83 Loss of stop codon mutations 15
So what does our codereally tells us today ?And can we act upon it ?