拷贝数变异(CNV)

CNVscontent•Basicunderstanding•ApproachestodetectCNVs•CNVsandbreastcancerdefinition•ACNVisdefinedasaDNAsegmentthatis1kborlargerandpresentatvariablecopynumberincomparisonwithareferencegenome.twocopiesindiploidcell1kb,indelsmulti-sitevariantsCNVsandhumandiseases•RareCNVsandrarediseasesCommonCNVsandcommondiseasesTechniquesforthedetectionofCNVs•aCGH(competitivegemomichybridizationbasedarray)•SnpmicroarrayThewholegenome•Targetedlocus•qPCRworkflow•BRCA1/2•GSTM1/GSTT1•CYP•MTUS1