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Updated InterVar annotations

annotation acmg intervar indels written 11 weeks ago by luca t • 0 • updated 26 days ago by Biostar ♦♦ 20

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606

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6 follow

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ACMG assignment tools

wgs wes acmg written 8 months ago by Eugene A • 90 • updated 11 weeks ago by akoussounadis • 10

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192

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Creating bed file for gene specific variant extraction from VCF file

genome vcf acmg written 5 months ago by karthick.n • 10 • updated 5 months ago by Amitm • 2.1k

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305

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ACMG 59 genes

incidental findings genes secondary findings acmg written 7 months ago by karthick.n • 10

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189

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Analysis of variants in selected genes

vcf genes variants acmg written 7 months ago by karthick.n • 10

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1.4k

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InterVar and Varsome discrepancies in ACMG classification

guidelines intervar varsome acmg written 21 months ago by cocchi.e89 • 120 • updated 20 months ago by manuel.belmadani • 1.3k

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512

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how can a DELETION be not a NULL variant?

exome indel deletion variant acmg written 20 months ago by cocchi.e89 • 120 • updated 20 months ago by Jean-Karim Heriche ♦ 24k

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427

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Loss Of Function known affected genes

variants lof clinical annotation acmg written 2.1 years ago by cocchi.e89 • 120

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1.2k

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Tool: Varstation - High precision on genetic analysis

next-gen tool germline acmg exome pipelines written 2.6 years ago by karla.ferraz • 30

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Recent Replies

C: Script for XP-EHH, EHH and iHS tests and phasing vcf file that works on all chro by 4galaxy77 • 290
Why do you want to do all chromosomes at once? Since chromosomes are discrete units, it doesn't m...
A: Microarray data from different sets but same platform by Ar • 1.0k
Do the following before combing the dataset: 1. Check the metadata file for both experiments. 2...
C: Annotating reads with the name of the feature to which they map by A. Domingues • 2.4k
I am not familiar with mpileup, but you could possible do (i) convert mpileup to bed, (ii) inters...
C: [RNA-seq] Extremely Unconsistent Raw Count from Different Tools; a dark mistery by ATpoint ♦ 46k
That is pretty low, guess that's the answer then. I would use salmon, in fact I do :)
C: want to extract all column which have particular value by GenoMax ♦ 96k
Please clarify if you want to separate all rows that have either `1` or `-1` into two separate fi...
C: Creating Correlation Plot using distance method from a data.frame by rpolicastro ♦ 3.9k
Can you add the data frame to your post? `dput(df)`
C: [RNA-seq] Extremely Unconsistent Raw Count from Different Tools; a dark mistery by ReWeeda • 70
samtools view sample_CD99.bam | awk '{sum+=$5} END { print "Mean MAPQ =",sum/NR}' Mean M...
A: want to extract all column which have particular value by ashishjayamohan • 0
I know this question has been answered prior, but you could also solve this issue using a small P...
C: [RNA-seq] Extremely Unconsistent Raw Count from Different Tools; a dark mistery by ATpoint ♦ 46k
Are the reads covering that gene of good mapping quality or multimappers (MAPQ=0, or at least low)?
A: On understanding the axis of a PCA plot by Sam • 3.3k
Don't think the value of PC can be directly translated into distance. What you want is the IBD / ...
C: Merge bigwig Files with different intervals by pt.taklifi • 60
Hi , ATpoint! Im sorry i was not clear about this. There are 796 ATACseq samples from different c...
C: Emboss: skipredundant vs needle by GenoMax ♦ 96k
What do you mean by they got separated into two files? If I try your example sequences only 1 seq...

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