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PMID: 20519329 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Review

Challenges of sequencing human genomes.

Briefings in bioinformatics ·Vol. 11 ·No. 5 ·2010-09-00 ·Pages 484-98

Koboldt DC, Ding L, Mardis ER, Wilson RK

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.

MeSH Terms
Base Sequence Genetic Variation Genome, Human Humans Neoplasms/genetics Sequence Analysis, DNA/instrumentation,methods Software
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Koboldt Daniel C
The Genome Center at Washington University, St. Louis, Missouri 63108, USA. [email protected]
Ding Li
Mardis Elaine R
Wilson Richard K
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Article Info
Journal
Briefings in bioinformatics
Abbr.
Brief Bioinform
ISSN
1477-4054
DOI
10.1093/bib/bbq016
Email
[email protected]
Published
2010-09-00
Epub
2010-00-02
Pages
484-98
Language
English
Region
England
NLM ID
100912837
PMCID
PMC2980933
Subset
IM
Grants
NHGRI NIH HHS · HG003079 · United States
External Links
PubMed source DOI: 10.1093/bib/bbq016 PMC Full Text View journal details
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