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Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

2022-09-12

Abstract excerpt

As the state-of-the-art sequencing technologies and computational methods enable investigation of challenging regions in the human genome, an update variant benchmark is demanded. Herein, we sequenced a Chinese Quartet, consisting of two monozygotic twin daughters and their biological parents, with multiple advanced sequencing platforms, including Illumina, BGI, PacBio, and Oxford Nanopore Technology. We phased th...

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Literature Corpus work
ef8623ac-0aa2-5104-b10c-c93ac2d7bec4
DOI
10.1101/2022.09.08.504083
Open publication

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Haplotype-resolved assemblies and variant benchmark of a Chinese QuartetDOI 10.1101/2022.09.08.504083
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