User: giovanni.birolo

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Posts by giovanni.birolo

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high frequency protein truncating variants in hg19
... Hello, in a whole-exome dataset of healthy individuals I am working with, I noticed some high frequency protein truncating variants. I find this strange and confusing, since I generally expect PTV to be deleterious and thus low frequency. For instance, rs72559129 is a frameshift variant with allelic ...
genome annotation reference written 5 months ago by giovanni.birolo0 • updated 5 months ago by WouterDeCoster40k
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Run of homozigosity on multiple imputed chips
... Dear all, we are doing a study on the possible association between ROH and disease. We have SNP-chip data from three different chips, which have been imputed with the Haplotype Reference Consortium data. We have not yet been able to distinguish which SNPs are imputed and which ones are from the orig ...
roh imputation snp written 12 months ago by giovanni.birolo0 • updated 11 months ago by Kevin Blighe46k
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Comment: C: Looking for a database of murine piRNA sequences
... Thanks, that is a possible solution to the technical problem. 73k sequences are much more manageable, but I am still puzzled by the wildly different numbers in these databases... ...
written 18 months ago by giovanni.birolo0
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Looking for a database of murine piRNA sequences
... Hello, I have a problem concerning a differential expression analysis of small non-coding RNA using sequencing data. I am trying to adapt a pipeline that I use for human small non-coding to mouse small non-coding. For human, I have a set of reference sequences where I use piRNA sequences from the pi ...
rna-seq written 18 months ago by giovanni.birolo0

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