SelectScience
Join Free
Accelerating Science
NewsLife Sciences

Illumina Announces Phasing Analysis Service for Human Whole-Genome Sequencing

Illumina
18 Jul 2013

Product news

Illumina, Inc. has announced the availability of its Phasing Analysis Service, provided by the company's FastTrack Services lab through the Illumina Genome Network (IGN). The new sample-to-answer service delivers human whole-genome phase information, empowering gene mapping studies with a more comprehensive view of genomic variation. With phase data, researchers can better understand the effect of genotype on phenotype and variant interaction within a gene.

Conventionally, whole-genome sequencing generates a single consensus sequence without assigning variants to specific homologous chromosomes. Phase information, however, can identify segments of connected variants, facilitating ancestry determination in population studies. Further, in instances where two potentially deleterious variants occur in a gene, knowing how these variants impact the function of one or both copies of the gene is useful in identifying genetic causes of disease. Illumina's Phasing Analysis Service reduces reliance on statistical inference methods and availability of trios, thereby delivering more accurate phase information at a fraction of the cost of conventional methods.

"We are thrilled to be the first company to offer the research community this comprehensive human whole-genome sequencing and phasing service," said Christian Henry, Senior Vice President and General Manager of Illumina's Genomic Solutions business. "Customers who participated in the beta testing used the service for a diverse range of applications, from human population studies to the identification of variants causing rare disease. Early customer feedback has been overwhelmingly positive."

Illumina gained access to the synthetic long read technology that enables human whole-genome phasing through its acquisition of Moleculo, Inc. announced in January 2013. Sample preparation kits for generating synthetic long reads and human phasing data are in development.

The new Phasing Analysis Service is available for immediate ordering as an add-on to the IGN Whole-Genome Analysis Service, delivering results within twelve weeks.

Links

IlluminaCompany website

Tags

Genome AnalysisGenomics, the study of genomes, includes functional genomics, evolutionary genomics and comparative genomics. There are many genomic technologies such as DNA sequencing of whole genomes, computational biology and bioinformatics. DNA and nucleic acids must be isolated and concentrated from cells for analysis with kits, automated analyzers and software. Other useful technologies for studying genomics include PCR, microarrays and electrophoresis.DNA SequencingDNA sequencing, such as sanger sequencing, is a biological technique that determines the precise order of nucleotide bases in a fragment or template of DNA. DNA sequencers and genetic analyzers are based on capillary electrophoresis, where labeled DNA fragments are electrophoretically separated by size as they migrate through a polymer. Find the best DNA sequencing products, including DNA sequencing kits, genomic libraries and genetic identity kits in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Next Generation SequencingNext-generation sequencing (NGS), also known as whole-genome sequencing, high-throughput sequencing and massive parallel sequencing, produces and analyses thousands to millions of nucleotide sequences at once. Sequencing systems operate via varying technologies depending on the manufacturer, including sequencing by synthesis, ligation, pyrosequencing, ion semiconductor and single-molecule real-time sequencing. For NGS, library preparation is paramount to successful sequencing. In this section, explore a range of library preparation kits, from targeted, amplicon-based or hybridization-based kits including epigenomic, transcriptomic and genomic workflows to fragmentation kits. Find the best next-generation sequencing products in our peer-reviewed product directory: compare products, check customer reviews and receive pricing direct from manufacturers.Genome SequencingGenome sequencing involves determining the complete DNA sequence of an organism's genome. It provides crucial information about genetic variations, mutations, and diseases. Advances in sequencing technologies, such as next-generation sequencing (NGS), have accelerated research in genomics, diagnostics, and personalized medicine. Explore genome sequencing tools in our peer-reviewed product directory; compare products, check reviews, and get pricing directly from manufacturers.

Related articles

Illumina Announces Phasing Analysis Service for Human Whole-Genome Sequencing