Article
Pitfalls of haplotype phasing from amplicon-based long-read sequencing.
Scientific reports - 17 Feb 2016
Laver Thomas W, Caswell Richard C, Moore Karen A, Poschmann Jeremie, Johnson Matthew B, Owens Martina M, Ellard Sian, Paszkiewicz Konrad H, Weedon Michael N
Abstract excerpt
The long-read sequencers from Pacific Bioscience (PacBio) and Oxford Nanopore Technologies (ONT) offer the opportunity to phase mutations multiple kilobases apart directly from sequencing reads. In this study, we used long-range PCR with ONT and PacBio sequencing to phase two variants 9 kb apart in the RET gene. We also re-analysed data from a recent paper which had apparently successfully used ONT to phase...
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