Exome sequencing and complex disease :. practical aspects of rare variant association studies Alice Bouchoms Amaury Vanvinckenroye Maxime Legrand. What is exome sequencing ?. Exon : coding sequence of the DNA Exome sequencing :
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Exomesequencing and complexdisease :
practical aspects of rare variant association studies
depth of sequencing/person : 60x or greater
Determineancestries or estimategenotype
Check of quality data
p values ≤ 5 10-7
Take the base whichhas the highestcorrelationwith the missing one, and assume itis the sameallelethan T (i.e. minor or major).