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InterVar and Varsome discrepancies in ACMG classification

guidelines intervar varsome acmg written 12 months ago by cocchi.e89 • 50 • updated 10 months ago by manuel.belmadani • 1.2k

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315

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how can a DELETION be not a NULL variant?

exome indel deletion variant acmg written 10 months ago by cocchi.e89 • 50 • updated 10 months ago by Jean-Karim Heriche ♦ 22k

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303

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Loss Of Function known affected genes

variants lof clinical annotation acmg written 15 months ago by cocchi.e89 • 50

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959

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Tool: Varstation - High precision on genetic analysis

next-gen tool germline acmg exome pipelines written 21 months ago by karla.ferraz • 30

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Recent Replies

A: Error with using getBM function in biomaRt by morteza.aslanzadeh • 10
It seems that there was a server error in ```ensembl```. I ran my code again and again (without ...
C: integrate eight single cell *.csv files into one *.csv file by yueli7 • 140
Hello Mensur Dlakic, Thank yo so much for your great help! You are right! Best, Yue
C: remove Batch Effect between several **RNA-seq** studies (no replication) by ATpoint ♦ 34k
All you need for a ranking is a measure of confidence that are gene is differential or not and a ...
C: remove Batch Effect between several **RNA-seq** studies (no replication) by snstab • 0
Hi. Thank you for your reply and comment. Incidentally, I was very keen on having p-value data on...
C: remove Batch Effect between several **RNA-seq** studies (no replication) by snstab • 0
Thanks for your reply. I want to remove Batch Effect between **several** RNA-seq studies that **o...
C: Error with using getBM function in biomaRt by morteza.aslanzadeh • 10
I couldn't understand exactly what you just recommended. Since I need all the background genes fo...
C: Error with using getBM function in biomaRt by morteza.aslanzadeh • 10
When I tried to use this with fewer genes it worked. Isn't this because of the server error? I wa...
C: Error with using getBM function in biomaRt by RamRS ♦ 27k
I'd recommend passing `bg_genes` in batches of 5000 and then picking the batch that errors out, t...
C: Error with using getBM function in biomaRt by morteza.aslanzadeh • 10
`bg_genes` class is character and the output for the second command is `character 22287`
C: Which tool is best for getting genomic data analysis? by RamRS ♦ 27k
In my previous team, we used hail as a stand-in for plink. It gave us a way to look at IBD/IBS an...
C: Error with using getBM function in biomaRt by RamRS ♦ 27k
There's probably an element in `bg_genes` that is not a character string. What is the output to ...
C: GWAS vs other bioinformatics methods by Kevin Blighe ♦ 59k
Sorry, to answer this, I think that you need to search online. It seems that you first need to un...

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