State of the Art De Novo Assembly of Human Genomes from Massively Parallel Sequencing Data

Overview

Journal Hum Genomics

Publisher Biomed Central

Specialty Genetics

Date 2010 Jun 1

PMID 20511140

Citations 35

Authors

Yingrui Li

Yujie Hu

Lars Bolund

Jun Wang

Affiliations

Soon will be listed here.

Abstract

Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively parallel sequencing, but a conventional bioinformatics solution is costly and slow, creating bottlenecks in the process. This review describes two public short-read de novo assembly applications that can handle human genomes, ABySS and SOAPdenovo. It also discusses the technical aspects and future challenges of human genome de novo assembly by short reads.

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