haploPhasedGM20847
Haplotype resolved genome sequencing of a Gujarati Indian individual
We combine the throughput of massively parallel sequencing with the contiguity information provided by large-insert cloning to determine the haplotype-resolved genome sequence of a South Asian individual. By sequencing highly complex pools of minimally redundant haploid clones, we directly phased 94% of ascertained heterozygous SNPs into long haplotype blocks (N50 of 386 kbp). Haplotype information is essential to the complete description and interpretation of individual human genomes and human genetic diversity, and facilitates the accurate sequencing of more structurally complex regions of the genome.