Next-generation sequencing: A new revolution in molecular diagnostics?

摘要: In 1980, Fred Sanger and Walter Gilbert were awarded the Nobel Prize in Chemistry for discovering novel ways sequencing nucleic acids. 2003, human genome sequence was published, an effort that involved more than 3000 scientists from 6 countries. The work took 13 years to complete, at a cost of nearly $3 billion. Only later, acid technologies have advanced stage which can be sequenced within weeks $50 000 or less. These new are about million times efficient standard sequencing. Now, people talking $1000 genome, there is X worth $10 100 genomes 10 days <$10 per genome. International organizations thousands cancer find genetic changes, individuals with money paying genomewide association studies hopes preventing diseases they predisposed. Although high-throughput here although being perfected terms accuracy reduced costs, many questions raised. Some these explored below leading academia industry. Karl V. Voelkerding2 : Calculating needs incorporate level “completeness” “coverage” will required accurately characterize both structural variation. Reagent wet bench labor costs should approach $5000 less three five years, depending on technology. It difficult price bioinformatic analysis, currently lengthy extensive process varies asked. New computational algorithms definitely streamline this process. Beyond …