We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Challenges of sequencing human genomes.
- Authors
Koboldt, Daniel C.; Ding, Li; Mardis, Elaine R.; Wilson, Richard K.
- Abstract
Massively parallel sequencing technologies continue to alter the study of human genetics. As the cost of sequencing declines, next-generation sequencing (NGS) instruments and datasets will become increasingly accessible to the wider research community. Investigators are understandably eager to harness the power of these new technologies. Sequencing human genomes on these platforms, however, presents numerous production and bioinformatics challenges. Production issues like sample contamination, library chimaeras and variable run quality have become increasingly problematic in the transition from technology development lab to production floor. Analysis of NGS data, too, remains challenging, particularly given the short-read lengths (35–250 bp) and sheer volume of data. The development of streamlined, highly automated pipelines for data analysis is critical for transition from technology adoption to accelerated research and publication. This review aims to describe the state of current NGS technologies, as well as the strategies that enable NGS users to characterize the full spectrum of DNA sequence variation in humans.
- Subjects
HUMAN genetics; NUCLEOTIDE sequence; BIOINFORMATICS; DNA synthesis; MEDICAL technology
- Publication
Briefings in Bioinformatics, 2010, Vol 11, Issue 5, p484
- ISSN
1467-5463
- Publication type
Article
- DOI
10.1093/bib/bbq016