title: Stepping stones in DNA sequencing.
abstract: 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.
authors.affiliation: Science for Life Laboratory, KTH Royal Institute of Technology, Stockholm, Sweden. henrik.stranneheim@scilifelab.se
authors.forename: Henrik
authors.initials: H
authors.lastname: Stranneheim
authors.forename: Joakim
authors.initials: J
authors.lastname: Lundeberg
mesh_terms: D023281:Genomics / Q000379:methods*; D006801:Humans; D036103:Nanotechnology / Q000379:methods; D017422:Sequence Analysis, DNA / Q000379:methods*