Kaper, F. et al. Proc. Natl. Acad. Sci. USA 110, 5552–5557 (2013).
Next-generation sequencing and genotyping arrays do not distinguish which chromosomal copy alleles belong to. One approach that has been used to resolve haplotypes involves first diluting samples into aliquots that each contain no more than a fragment from a single chromosome copy. Kaper et al. applied this principle on the Illumina sequencing platform by amplifying diluted aliquots with multiple displacement amplification and then preparing barcoded libraries for multiplexed sequencing. They demonstrated targeted haplotype-resolved sequencing of a 1-megabase Duchenne muscular dystrophy region with high accuracy and then produced two long-range haplotype-phased human genomes.
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A dilution solution to haplotyping. Nat Methods 10, 383 (2013). https://doi.org/10.1038/nmeth.2454
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DOI: https://doi.org/10.1038/nmeth.2454