Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.

ABSTRACT: Haplotype-resolved genome sequencing enables the accurate interpretation of medically relevant genetic variation, deep inferences regarding population history and non-invasive prediction of fetal genomes. We describe an approach for genome-wide haplotyping based on contiguity-preserving transposition (CPT-seq) and combinatorial indexing. Tn5 transposition is used to modify DNA with adaptor and index sequences while preserving contiguity. After DNA dilution and compartmentalization, the transposase is removed, resolving the DNA into individually indexed libraries. The libraries in each compartment, enriched for neighboring genomic elements, are further indexed via PCR. Combinatorial 96-plex indexing at both the transposition and PCR stage enables the construction of phased synthetic reads f

SUBMITTER: Amini S 

PROVIDER: S-EPMC4409979 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature