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De novo assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

2018-02-18

Abstract excerpt

We have performed de novo assembly of two Swedish genomes using long-read sequencing and optical mapping, resulting in total assembly sizes of nearly 3 Gb and hybrid scaffold N50 values of over 45 Mb. A further analysis revealed over 10 Mb of sequences absent from the human GRCh38 reference in each individual. Around 6 Mb of these novel sequences (NS) are shared with a Chinese personal genome. The NS are highly r...

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Literature Corpus work: e67c4878-bf6e-5100-9a32-0ce8140778f9
DOI: 10.1101/267062

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<i>De novo</i> assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing data

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