Next-generation gap.
There is a growing gap between the generation of massively parallel sequencing output and the ability to process and analyze the resulting data. New users are left to navigate a bewildering maze of base calling, alignment, assembly and analysis tools with often incomplete documentation and no idea how to compare and validate their outputs. Bridging this gap is essential, or the coveted $1,000 genome will come with a $20,000 analysis price tag.
McPherson
John D
JD
Ontario Institute for Cancer Research, Toronto, Ontario, Canada. john.mcpherson@oicr.on.ca
D001483:Base Sequence; D014644:Genetic Variation; D016678:Genome; D006801:Humans; D016415:Sequence Alignment / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000295:instrumentation / Q000379:methods*; D012984:Software