454 Life Sciences, a Roche company, has announced the publication of the 250th peer-reviewed study using the Genome Sequencer FLX system.
The studies span a diverse group of sequencing applications: 82 whole genome sequencing papers including de novo sequencing and re-sequencing for comparative genomics; 54 small RNA studies; 37 papers in the field of metagenomics; 27 studies in transcriptome profiling, including whole transcriptome assembly and expression profiling; 13 studies examining chromosome structure and epigenetics; 10 studies in the new field of ultra-deep sequencing for rare variant detection; 11 studies examining ancient DNA.
The remaining papers focus on the technology and informatics of the 454 sequencing system.
The diverse applications demonstrate the power of the 454 Sequencing System to tackle areas of research, including fields that traditionally could not be addressed by sequencing.
Many of the studies have appeared in journals, including: 20 papers in Nature, 13 papers in Science, 6 papers in Cell, 20 papers in Genome Research, and 24 papers in The Proceeding of the National Academy of Sciences, USA.
The studies published to date come from diverse research fields, such as cancer research, infectious diseases research, drug discovery, marine biology, anthropology, and palaeontology.
The 250 papers are complemented by numerous review articles that explore the current uses and future potential of 454 Sequencing.
Two studies titled 'Comprehensive resequence analysis of a 136kb region of human chromosome 8q24 associated with prostate and colon cancers' and 'Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing' highlight the ability of the Genome Sequencer FLX system to accurately characterise genetic variation in a disease associated region and to identify low frequency somatic mutations in cancer samples.
The first study, performed by researchers at the National Cancer Institute in the USA, employed standard shotgun sequencing of a targeted genomic region to identify heterozygotic variation associated with cancers.
The second study, from researchers at the Wellcome Trust Sanger Institute in the UK, used 454 ultra-deep amplicon sequencing to detect rare variants, including single-nucleotide polymorphisms (SNPs), insertion, and deletions in the Ig heavy chain locus of multiple B-cell chronic lymphoma leukaemia samples.
