SNP-specific extraction of haplotype-resolved targeted genomic regions

摘要: The availability of genotyping platforms for comprehensive genetic analysis complex traits has resulted in a plethora studies reporting the association specific single-nucleotide polymorphisms (SNPs) with common diseases or drug responses. However, detailed these associated regions that would correlate particular to phenotypes lagged. This is primarily due lack technologies provide additional sequence information about genomic surrounding SNPs, preferably haploid form. Enrichment methods resequencing should have specificity DNA linked SNPs interest sufficient quality be used cost-effective and high-throughput manner. We describe simple, automated method targeting sequences can directly downstream applications. isolates chromosomal flanking targeted by hybridizing enzymatically elongating oligonucleotides biotinylated nucleotides based on their selective binding unique elements differentiate one allele from any other differing sequence. region captured streptavidin-coated magnetic particles analyzed standard genotyping, sequencing microarray analysis. applied this technology determine contiguous molecular haplotypes across ~150 kb major histocompatibility complex.