Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell.

ABSTRACT: The longest possible haplotype is chromosome haplotype that is a set of co-inherited alleles occurred on a single strand chromosome inherited from one parent. Standard whole-genome shotgun sequencing technologies are limited by the inability to independently study the haplotype of homologous chromosomes due to the short-reads sequencing strategy and disturbance of homologue chromosomes. Here, we investigated several types of chromosomal abnormalities by a dilution-based method to separate an intact copy of homologous chromosome from human metaphase cells, and then single chromosomes were independently amplified by whole-genome amplification methods, converted into barcoded sequencing libraries, and sequenced in multiplexed pools by Illumina sequencers. We analyzed single chromosome derived

SUBMITTER: Luo D 

PROVIDER: S-EPMC5785984 | biostudies-literature | 2018 Jan

REPOSITORIES: biostudies-literature