Off topic:Human Genome Assembly Differences
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12.4 years ago

Hello,

what is difference between main release e.g. GRCh37 and its patches e.g. GRCh37.p5? Can patching lead to changes in positions ("insertions, deletions") or it is just repairing of wrong bases(substitutions)?

I have some data showing positions of mutations,deletions,transversions,... in GRCh37 and I would like to check whether they were already reported. I know there are databases like COSMIC,SNPdb,dbVar and possibly much more - is there some one-stop shop for this type of data? If possible GRCh37-based and with programatic access.

Thank you for answers

assembly human • 1.7k views
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