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Tutorial for neurogenomics or rare disease diagnosis

epilepsy counseling clinical autism written 16 months ago by gogonegro • 0

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How to Analyze CNV with Autism

cnv autism written 2.8 years ago by huamiiforget • 10 • updated 2.6 years ago by QVINTVS_FABIVS_MAXIMVS • 2.1k

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Somatic mutation(indels) in blood sample(autism)

indel somatic blood mutation autism written 3.5 years ago by lee.jingu0626 • 30

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Recent Locations • All »

United Kingdom, 7 minutes ago
Medical University of Lodz, 8 minutes ago
France/Nantes/Institut du Thorax - INSERM UMR1087, 10 minutes ago
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Recent Replies

C: Contig name in SAM file by genomax ♦ 59k
This appears to be data aligned to hg19 (GRCh37) human genome. The @SQ lines are the chromosome n...
A: Parsing error with Provean : Someone else ? by 820021668 • 0
Did you resolve it? I have the same problem as you. I changed my database, use different Linux sy...
A: How to find CDS in Gene Profile? by genomax ♦ 59k
You can find the CDS sequence [of that gene here][1]. You can find that cross reference on the [U...
C: High no feature counts in ht-seq counts by eozcan • 0
I dowloaded them both from ncbi from same genome.
C: High no feature counts in ht-seq counts by eozcan • 0
stranded option is reverse, I specified it. It is there. What else is incomplete I didnt understa...
A: Genotype Extraction Format from VCF file by WouterDeCoster ♦ 35k
While your question is unclear, if you select lines from your vcf and keep the header intact then...
C: How to pass MAF file to dNdScv to detect cancer driven genes? by zx8754 ♦ 6.0k
Could you provide you example "MAF-file"?
C: "GOplot" and problem with making an integrated matrix by zx8754 ♦ 6.0k
They are just R data file formats, once you read them in they become R objects. Then you can comp...
C: Analysis Without Replicates by stevenmarkgalway • 0
Thanks for your feedback guys, much appreciated. Yeah, I have absolutely no replicates and yes th...
C: Analysis Without Replicates by piyushjo • 80
Didn't mean to suggest that as the correct method, but rather a method to get top genes to valida...
C: Analysis Without Replicates by ATpoint ♦ 10k
Don’t ever duplicate results to get pseudoreplicates. See https://www.biostars.org/p/352699/
C: VCF file phasing by SHAPEIT by Kevin Blighe ♦ 33k
I would contact the authors directly. They have a duty to follow-up on these things if they are s...

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