Originally posted by frozenlyse
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Originally posted by rskr View PostYep it was more important when you have 36mers to know how bad the alignments with them are. Now that we have 100mers, we can be a little more confident in our alignments.
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Phillip
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Originally posted by pmiguel View PostWell, don't be coy. What benchmarking protocol would satisfy you? Please be specific.
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Phillip
BWA, comes with a test suite, that will generate randomized reads, and evaluate them.
Pretty easy, only reason not to do it is you know it isn't good.
wgsim does do some error modeling and biological zygosity, but it doesn't do a very sophisticated job of the error modeling such as quality and error decreasing at the ends of reads, so it is still somewhat optimistic. Also the scoring is a little odd it doesn't measure the exact SNPs, and indels, but only if the reads were in the right place +-5bp, and if a read maps wrong multiple times that counts against the error multiple. That could be improved, but it will give a pretty good idea of what the accuracy really is.
The best thing about bench marking? Its cheap!
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Many organizations study rare diseases, but few have a mission as impactful as Rady Children’s Institute for Genomic Medicine (RCIGM). “We are all about changing outcomes for children,” explained Dr. Stephen Kingsmore, President and CEO of the group. The institute’s initial goal was to provide rapid diagnoses for critically ill children and shorten their diagnostic odyssey, a term used to describe the long and arduous process it takes patients to obtain an accurate...-
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