Fields of Biology
Human genetics & genomics
Overview
Featuring a unique combination of long reads and outstanding data quality, the Genome Sequencer FLX System enables comprehensive analysis of human genetic variation. The recent sequencing of several individual human genomes has confirmed the large degree of variation in human populations. Compared to the reference human genome, an individual's genome contains approximately 3 million single nucleotide polymorphisms (SNPs), over 200,000 smaller insertions and deletions and 1,000 larger structural rearrangements. The GS FLX System is an ideal tool for human genomics, and for uncovering the genetic basis of phenotype, including disease.
Applications
Whole human genomes
The GS FLX System enables bias-free whole human genome sequencing with exceptional single-read accuracy and 99% genome coverage.
Disease associated regions
Perform straightforward sequencing of disease associated regions by shotgun sequencing of either long range PCR products, or DNA fragments captured using NimbleGen Sequence Capture arrays.
Ultra-deep exon resequencing
Generate highly accurate sequences of thousands of amplified exons per run or PCR product fragments for heterozygote analysis or calling of somatic mutations.
Exome resequencing
Using the NimbleGen sequence capture arrays, it is now possible to enrich DNA fragments covering all human exons stored in the CCD database.
Variation detection using cDNA
Use the GS FLX System to shotgun sequence normalized cDNA libraries to detect genetic variations including SNPs, insertions and deletions in the coding genome.
Non-coding RNA detection, splice variant analysis, SuperSAGE expression profiling, and many more
Publications
- Wheeler et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452: 872-876. April 17, 2008.
- Albert et al. Direct selection of human genomic loci by microarray hybridization. Nature Methods 4: 903-5. November 2007.
- Thomas et al. Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. Nature Medicine 12: 852-5. July 2006.
- Sugarbaker et al. Transcriptome sequencing of malignant pleural mesothelioma tumors. PNAS 105: 3521-3526. March 4, 2008.