Whole-Genome Sequencing by Next-Generation (SOLiD®) Sequencing
Once the reference sequence for a given organism is completed, you can perform comparative sequencing to characterize the genetic diversity within the species or between closely related species.
For Genetic Variations, the 5500 Genetic Analyzer is the Instrument of Choice
With superior throughput and accuracy, the 5500xl Genetic Analyzer is the platform of choice for cost-effective variant detection. Generating over 20 Gb of sequence a day with up to 99.99% accuracy gives you more mapped reads and less redundancy and “noise.” In addition, significantly higher physical coverage from mate-paired libraries compared to paired-end approaches enables you to get more accurate variant detection with much lower coverage than competitive platforms.
The Mate-Paired Library Advantage
- Mate-paired libraries enable you to detect structural variation such as insertions, deletions, inversions, translocations, duplications, and copy number variations in addition to SNPs.
- A broad variety of mate-paired insert sizes (0.6–6 Kb) provide you with the flexibility to accurately detect structural changes across a broad size range using 20 times less coverage than 500 bp paired-end reads.
- Preservation of strand orientation during analysis enables you to precisely pinpoint translocation breakpoints.
The 5500xl Genetic Analyzer delivers:
- Superior variant discovery—up to 99.99% accuracy with the Exact Call Chemistry (ECC) module allows detection of variants present in as little as 5% of your sample, with half the coverage needed for 99.0% accuracy
- Easy analysis—LifeScope™ analysis software gives you intuitive, fully annotated variant detection and reporting
- Flexible format—choose from fragment, paired-end, or mate-paired libraries of various sizes, and run them in whatever combination you like using the fully configurable 6-lane FlowChip
For Research Use Only. Not intended for any animal or human therapeutic or diagnostic use.
Step-by-Step Guide to Whole Genome Resequencing
- The complete genome sequence of Escherichia coli DH10B: insights into the biology of a laboratory workhorse.
Publication: J Bacteriol. 2008 Apr;190(7):2597-606. Epub 2008 Feb 1.
Authors: Durfee, T., et al.
- Whole-genome resequencing reveals loci under selection during chicken domestication.
Publication: Nature 464, 587-591 25 March 2010
Authors: Rubin C., et al.
- Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Publication: N Eng J Med 10 March 2010
Authors: Lupski J., et al.
- Development of personalized tumor biomarkers using massively parallel sequencing.
Publication: Science Translational Medicine, 24 February 2010
Authors: Leary R., et al.
- U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line.
Publication: PLoS Genetics, January 2010, volume 6, issue 1
Authors: Clark, et al.
- Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive; Prenatal Diagnosis of Trisomy 21
Publication: Clinical Chemistry 56:3 (2010)
Authors: Chiu, et al.
- Complete Khoisan and Bantu genomes from southern Africa.
Publication: Nature, Vol 463, 18 February 2010
Authors: Schuster et al.
- Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
Publication: American Journal Human Genetics, (2011)
Authors: O'Sullivan J. et al.
- Comparison of Sequence Reads Obtained from Three Next-Generation Sequencing Platforms
Publication: PLoS ONE (2011)
Authors: Suzuki S. et al.
- Extensive genomic and transcriptional diversity identified through massively parallel DNA and RNA sequencing of eighteen Korean individuals
Publication: Nature Genetics (2011)
Authors: Ju. et al.
- Global analysis of disease-related DNA sequence variation in 10 healthy individuals: Implications for whole genome-based clinical diagnostics
Publication: Genetics in Medicine (2011)
Authors: Moore. et al.
- Demographic history and rare allele sharing among human populations
Publication: Gravel S et al (2011)