Helicos BioSciences Announces the First Ever Single-Molecule View of Whole Human Genome
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The study, conducted by Dmitry Pushkarev, Norma Neff and Stephen Quake was carried out using less than four runs of a single HeliScope™ Single Molecule Sequencer, and achieved 28X average coverage of the human genome. The sequencing allowed the detection of over 2.8 million single nucleotide polymorphisms (SNPs), of which over 370,000 were novel. Validation with a genotyping array demonstrated 99.8% concordance. The unbiased nature of the single-molecule sequencing approach also allowed the detection of 752 copy number variations (CNVs) in this genome.
"Helicos is very proud of this achievement and congratulates the Stanford group on their study; personal genome resequencing is another in a continuing series of major breakthroughs for our team as we bring the only true single-molecule sequencing available today to the market” said Ron Lowy, CEO of Helicos.
The Helicos Genetic Analysis System is the world’s first and only commercially available, single molecule sequencing technology, and enables scientists to conduct revolutionary studies in the fields of genome biology, cancer research, common diseases genetics, and microbiology without adapter ligation or amplification. Unlike other technologies that require complex and costly sample preparation, the Helicos Genetic Analysis System can analyze DNA directly, with very little manipulation, allowing individual laboratories to conduct affordable, large-scale experiments.
“Consider just how quickly our technology has enabled a single lab to interrogate a human genome" said Patrice Milos, CSO of Helicos. "This represents a major shift in the way we expect human genomics to be carried out in the future, with the hope of ultimately impacting human disease" added Milos.