Phased nanopore assembly with Shasta and modular graph phasing with GFAse

利用Shasta进行相控纳米孔组装,利用GFase进行模块化图相控。

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作者:Ryan Lorig-Roach ,Melissa Meredith ,Jean Monlong ,Miten Jain ,Hugh E Olsen ,Brandy McNulty ,David Porubsky ,Tessa G Montague ,Julian K Lucas ,Chris Condon ,Jordan M Eizenga ,Sissel Juul ,Sean K McKenzie ,Sara E Simmonds ,Jimin Park ,Mobin Asri ,Sergey Koren ,Evan E Eichler ,Richard Axel ,Bruce Martin ,Paolo Carnevali ,Karen H Miga ,Benedict Paten

Abstract

Reference-free genome phasing is vital for understanding allele inheritance and the impact of single-molecule DNA variation on phenotypes. To achieve thorough phasing across homozygous or repetitive regions of the genome, long-read sequencing technologies are often used to perform phased de novo assembly. As a step toward reducing the cost and complexity of this type of analysis, we describe new methods for accurately phasing Oxford Nanopore Technologies (ONT) sequence data with the Shasta genome assembler and a modular tool for extending phasing to the chromosome scale called GFAse. We test using new variants of ONT PromethION sequencing, including those using proximity ligation, and show that newer, higher accuracy ONT reads substantially improve assembly quality.

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