Quantifying single nucleotide variant detection sensitivity in exome sequencing

Overview of attention for article published in BMC Bioinformatics, June 2013

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As @AMeynert et al showed on what was presumably a now fairly obsolete pipe, sensitivity for homozygous and homozygous SNVs is >80% with just 2 reads, and >95% with 3. Specificity reaches its asymptote at 5 or 6. https://t.co/7S7EEENdly 7/n

Quantifying single nucleotide variant detection sensitivity in #exome sequencing http://t.co/Emh6EQUO4c #bmcbioinformatics

"...SeqCap EZ solution-based kit also generates more uniform coverage than Agilent kits" Read the pub now: http://t.co/OCQFhMF71V

Dont use average coverage! Quantifying SNV detection sensitivity in #exome #sequencing http://t.co/LYUCIk57Jf #bioinformatics #genomics #NGS

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