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prioritization according to phenotype description

gene prioritization prioritization written 2.9 years ago by Emma • 10 • updated 1 day ago by Michael Dondrup ♦ 44k

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2.8k

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Tool: Phevor: Phenotype Driven Variant Ontological Re-Ranking Tool

interpretation prioritization phevor vaast tool written 4.2 years ago by Moses M. Feaster • 30 • updated 7 months ago by trustedagent1 • 0

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390

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I need some sets of pathogenic variants related to any mendelian disorder.

prioritization variant written 16 months ago by sktbanerjee1 • 30 • updated 16 months ago by WouterDeCoster ♦ 32k

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467

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Trait specific SNP prioritization

gwas prioritization snp enrichment written 17 months ago by LNA • 30

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637

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Candidate Gene Prioritization

prioritization seed genes clustering written 24 months ago by nkausthu • 20 • updated 23 months ago by unksci • 150

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Recent Replies

C: Converting a single line fasta transcriptome [no space between sequence and name by cpad0112 • 9.0k
try: $ sed 's/$.*[0-9]\+$/\1\n/g' test.fa > new.fa or $ sed 's/\(.*Contig[0...
C: Combine many RSEM TPM outputs to single matrix by abbe.r.clark • 0
Perhaps I can change the rsem-generate-data-matrix function (https://github.com/deweylab/RSEM/blo...
C: tumorfusions.org is down by RamRS ♦ 17k
I guess [this is the paper][1], you can email the corresponding authors. [1]: https://www.ncbi....
C: gene expression analysis using RNA seq data by Charles Warden ♦ 5.3k
Hi Kevin, Actually, the study above used a fairly large amount of RNA-Seq samples: [ERP001058][1...
A: Converting a single line fasta transcriptome [no space between sequence and name by Pierre Lindenbaum ♦ 112k
sed 's/$[ATGCNatgc]*$$/ \1/' input.txt | tr " " "\n" > out.fa
C: gene expression analysis using RNA seq data by Kevin Blighe ♦ 28k
Thanks for the input Charles! I can indeed see the utility of RPKM / FPKM values in certain situa...
C: Alignment with bowtie2 but empty .fastq files by RamRS ♦ 17k
`| echo` doesn't do much, `| cat` is a better test. Also, there are exceptions. ![Exception][1...
C: gene expression analysis using RNA seq data by Charles Warden ♦ 5.3k
I very much agree that having p-values calculated from counts can be useful (and it important to ...
C: Adding annotation into a transcript in order to use TopHat2 by ATpoint ♦ 7.6k
Fyi, Tophat2 is deprecated (here a tweet from one of the developers). ![Tophat2][1] Current alt...
A: RNA-Seq for FFPE samples by Charles Warden ♦ 5.3k
While it is difficult to officially say a sample can't be used, those exonic alignment rates seem...
A: Can I put FF and FFPE samples together for RNA-seq data analysis by qxiong1 • 0
vst() works well, Kevin, thank you very much for your help!
A: BioVinci: user-friendly software to make plotting easy - PCA, 3D scatter plot, v by anne.bros • 30
thanks for your answer!

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