群体遗传学课件：7-Disease Research.pdf

Application of resequencing in population genetics --Disease research Sun Guangqing sunguangqing@ BGI, Shenzhen Outline • Background • Monogenic disease • Common disease  GWAS(Genome Wide Association Studies)  Cancer research Background • Completion of the human genome project provide us with human genome sequence, which is the fundation of resequencing study. • Development of sequencing technology accelerate the progress of disease research. Monogenic disease Monogenic disease • definition:Disorders caused by the inheritance of a single defective gene,such as albino, daltonism… • Linkage study need a large family with several generations affects, which is difficut to collect samples • Exome capture sequecing have indetified many caustive genes of monogenic diseases. Exome capture sequencing • Routine whole genome sequencing of large numbers of individuals is still not feasible partly due to the high cost • Exome sequencing has been demonstrated to be a powerful and cost-effective strategy for identifying the responsible genes of rare monogenic disorders (Ng et al., 2009, 2010; Hoischen et al., 2010) Exome Capture sequencing 8 Exome Capture sequencing Reference Raw genome reads Depth,coverage distribution Exome alignment region