User: cocchi.e89

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cocchi.e8910
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Posts by cocchi.e89

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Comment: C: gnomaAD exome and genome AF differences
... Thanks Pierre, can you be more exhaustive about that? As example, if I should analyze IgAN nephropathy which one would you suggest and why? Thanks a lot again ...
written 14 hours ago by cocchi.e8910
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Comment: C: gnomaAD exome and genome AF differences
... Thank you Pierre! Would one would you recommend to choose in order to take only rare variants? ...
written 14 hours ago by cocchi.e8910
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gnomaAD exome and genome AF differences
... Hi all, maybe it is a silly question but in my university script to annotate variants I have a couple of options relatives to gnomAD filtering: **--gnomad-exome-af**: is to specify a threshold and it will require variants to pass the threshold in all populations from "--gnomad-exome-pop" **--gnom ...
exome genome gnomad written 14 hours ago by cocchi.e8910 • updated 14 hours ago by Pierre Lindenbaum116k
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Comment: C: updated clinical variant annotation software and databases
... thanks a lot Manuel! So do you also use manual scripts that match with phenotypes, are these from ClinVar or other sources do you rely on? Thanks a lot again! ...
written 14 hours ago by cocchi.e8910
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updated clinical variant annotation software and databases
... Hi all! I know it may sound strange, but I would like to ask you all what software do you use for clinical annotation of variants. I know and use annovar, but I think there are plenty of and I would like to have a "global" idea of disposable software and DBs from this fantastic forum! Thanks a lo ...
exome annovar ngs clinvar clinical annotation written 1 day ago by cocchi.e8910 • updated 1 day ago by manuel.belmadani100
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get B allele frequency (BAF) and lor R ratio (LRR) in LINUX
... Dear all, I know I can obtain the BAF and LRR from raw data on Illumina GenomeStudio software, but it works on Windows. How about get them directly in Linux? Does anyone know if there is a way to do it? Thank a lot in advance ...
genome baf linux lrr written 7 days ago by cocchi.e8910

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