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Illumina to offer phasing data service for human whole-genome sequencing

Thu, 07/18/2013 - 4:35pm

Illumina, Inc. this week 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.

“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.”

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.

Illumina Phase Sequencing

Source: Illumina Inc.

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