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'HaploSeq' Pins Variants to Their Chromosomes


November 5, 2013 | To RNAseq and ChIPseq, add HaploSeq: a new sequencing method that not only identifies variants in an individual's genome, but also links them together into haplotypes. The technique, developed by researchers in the Ludwig Cancer Research network, combines standard DNA sequencing with proximity ligation and computational analysis to demonstrate whether identified variants occur on the same chromosome, or on separate homologous chromosomes. Previous genotyping techniques have had great success calling variants and determining whether individuals are homozygous or heterozygous for a given allele, but could not associate variants with one another to recreate the distinct haplotypes inherited from each parent. If its efficacy holds up in future trials, HaploSeq could find uses in ancestry studies, donor matching, and risk assessment for inherited variants. Nature Biotechnology
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