Stepping stones in DNA sequencing

• Published in: Biotechnology journal 2012-09, Vol.7 (9), p.1063-1073
• Main Authors: Stranneheim, Henrik, Lundeberg, Joakim
• Format: Article
• Language: English
• Subjects: DNA; Genomics; Genomics - methods; Humans; Medicin och hälsovetenskap; Nanopore sequencing; Nanotechnology - methods; Parallel sequencing; Reviews; Sequence Analysis, DNA - methods; Sequencing
• ISSN: 1860-6768; 1860-7314; 1860-7314
• DOI: 10.1002/biot.201200153

In recent years there have been tremendous advances in our ability to rapidly and cost‐effectively sequence DNA. This has revolutionized the fields of genetics and biology, leading to a deeper understanding of the molecular events in life processes. The rapid technological advances have enormously expanded sequencing opportunities and applications, but also imposed strains and challenges on steps prior to sequencing and in the downstream process of handling and analysis of these massive amounts of sequence data. Traditionally, sequencing has been limited to small DNA fragments of approximately one thousand bases (derived from the organism's genome) due to issues in maintaining a high sequence quality and accuracy for longer read lengths. Although many technological breakthroughs have been made, currently the commercially available massively parallel sequencing methods have not been able to resolve this issue. However, recent announcements in nanopore sequencing hold the promise of removing this read‐length limitation, enabling sequencing of larger intact DNA fragments. The ability to sequence longer intact DNA with high accuracy is a major stepping stone towards greatly simplifying the downstream analysis and increasing the power of sequencing compared to today. This review covers some of the technical advances in sequencing that have opened up new frontiers in genomics. Sequencing has traditionally been reserved for large and very well‐funded research centres, due to the high cost and expertize required. Recent technological advances related to massively parallel sequencing has enabled a significant cost reduction and a constantly increasing number of sequencing applications. This technical progress shows no signs of slowing down and will make sequencing even more accessible and important to genetics and biology in the future. This review covers some of the technical advances in sequencing that have enabled new frontiers in genomics.