5.4 Implications for Variant Discovery in Complex Regions of the Human Genome
Classical molecular genetic techniques including long-range PCR,cloning and Sanger DNA sequencing were employed to identify and characterize the CEL-HYB1 allele.Indeed,it is unlikely that the CEL-HYB1 allele would have been discovered by the current high-throughput methodologies such as GWAS of common variants and whole exome sequencing.This suggests that many of the disease-associated variants that occur in complex regions of the human genome will fail to be identified by currently used high-throughput screening techniques(Fjeld et al.2015).(https://www.daowen.com)