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0
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791
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Comment: Comment: adding transcripts ID to the REVEL score
20 months ago by Manuel ▴ 50
0
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1
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791
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adding transcripts ID to the REVEL score
annotation revel
20 months ago by Manuel ▴ 50
2
votes
1
reply
784
views
Why SpliceAI does not annotate variants in different transcripts as SpliceAI lookup does.
SpliceAI
21 months ago by Manuel ▴ 50
2
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0
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784
views
Answer: Answer: Why SpliceAI does not annotate variants in different transcripts as SpliceAI loo
21 months ago by Manuel ▴ 50
2
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2
replies
2.0k
views
VEP with CONDA, installing annotation sources manually, what is the right directory to save the sources?
CONDA VEP
updated 23 months ago by 15k • written 23 months ago by ▴ 50
0
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1
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2.3k
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Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
0
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0
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2.3k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
0
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0
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2.3k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
8
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15
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2.3k
views
Interesting discrepancy between NGS (Illumina) and Sanger seq.
NGS sanger Illumina variant
updated 23 months ago by ★ 2.3k • written 23 months ago by ▴ 50
0
votes
1
reply
2.3k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
0
votes
1
reply
2.3k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
0
votes
1
reply
2.3k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
23 months ago by Manuel ▴ 50
0
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0
replies
477
views
ANNOVAR annotates delition and duplications with different co-ordinates
SNPEFF VEP ANNOVAR
2.0 years ago by Manuel ▴ 50
2
votes
1
reply
539
views
The number of unique SNPs and indels in Clinvar
clinvar
updated 2.3 years ago by 147k • written 2.3 years ago by ▴ 50
0
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0
replies
1.7k
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Comment: Comment: A efficient way to simulate bedtools interset with python
2.3 years ago by Manuel ▴ 50
0
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0
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980
views
Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
2.3 years ago by Manuel ▴ 50
0
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5
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980
views
How to get the genomic coordinates of a transcripts in EntrezDirect ?
EntrezDirect
2.3 years ago by Manuel ▴ 50
0
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1
reply
980
views
Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
2.3 years ago by Manuel ▴ 50
0
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0
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1.0k
views
Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
2.3 years ago by Manuel ▴ 50
0
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0
replies
411
views
How to import data from a bed file into GenomeIntervalTree.from_bed
GenomeIntervalTree
2.3 years ago by Manuel ▴ 50
6
votes
7
replies
1.7k
views
A efficient way to simulate bedtools interset with python
Bedtools
updated 2.3 years ago by 102k • written 2.3 years ago by ▴ 50
0
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1
reply
1.7k
views
Answer: Answer: A efficient way to simulate bedtools interset with python
2.3 years ago by Manuel ▴ 50
2
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1
reply
1.7k
views
Comment: Comment: A efficient way to simulate bedtools interset with python
2.3 years ago by Manuel ▴ 50
0
votes
1
reply
1.0k
views
Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
2.3 years ago by Manuel ▴ 50
4
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4
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1.0k
views
Easy way to compare the co-ordenates between RefSeq transcripts
Refseq
2.3 years ago by Manuel ▴ 50
0
votes
1
reply
501
views
A criteria to classify probes based on the DP of its bases
NGS
updated 2.4 years ago by 5.0k • written 2.4 years ago by ▴ 50
0
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1
reply
1.3k
views
Comment: Comment: awk: cmd. line:1: fatal: division by zero attempted when calculating average dep
2.4 years ago by Manuel ▴ 50
0
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3
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1.3k
views
awk: cmd. line:1: fatal: division by zero attempted when calculating average depth when using subprocess
average_depth awk
updated 2.4 years ago by ▴ 850 • written 2.4 years ago by ▴ 50
2
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2
replies
761
views
Counting gaps that are less than a cutoff in a BAM file
BAM
2.4 years ago by Manuel ▴ 50
0
votes
0
replies
761
views
Answer: Answer: Counting gaps that are less than a cutoff in a BAM file
2.4 years ago by Manuel ▴ 50
0
votes
0
replies
409
views
How to get the total number of unique genes affected by Pathogenic SNPs in dbSNP?
dbSNP
2.4 years ago by Manuel ▴ 50
0
votes
0
replies
389
views
What coverage means for DGV
DGV CNV
2.4 years ago by Manuel ▴ 50
0
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0
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964
views
Comment: Comment: Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
2.4 years ago by Manuel ▴ 50
3
votes
2
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964
views
Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
Transcripts Ensembl GRCh37 RefSeq
2.4 years ago by Manuel ▴ 50
0
votes
1
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906
views
Comment: Comment: How to deal with different transcripts ID between versions
2.5 years ago by Manuel ▴ 50
1
vote
3
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906
views
How to deal with different transcripts ID between versions
gencode ensembl
updated 2.5 years ago by 44k • written 2.5 years ago by ▴ 50
0
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0
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1.4k
views
Comment: Comment: How annotation can be validated
2.5 years ago by Manuel ▴ 50
0
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8
replies
1.4k
views
How annotation can be validated
VEP
2.5 years ago by Manuel ▴ 50
0
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0
replies
359
views
How to get the GT in the default output format of VEP
VEP
2.5 years ago by Manuel ▴ 50
1
vote
0
replies
972
views
VEP + LOFTEE in GEL
VEP LOFTEE
updated 2.5 years ago by 44k • written 2.5 years ago by ▴ 50
0
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0
replies
447
views
VEP and loftee. How to get the GT value
loftee VEP
2.5 years ago by Manuel ▴ 50
0
votes
0
replies
320
views
How can I know the proportion of two deletion that they are in cis in IGV
IGV
2.6 years ago by Manuel ▴ 50
0
votes
0
replies
449
views
What QUAL mean in CNVs called by canvas
canvas
2.6 years ago by Manuel ▴ 50
0
votes
0
replies
907
views
Comment: Comment: Error The tag ING/CSQ not found in the header using bcftools
2.6 years ago by Manuel ▴ 50
1
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2
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907
views
Error The tag ING/CSQ not found in the header using bcftools
vcf bcftools
2.6 years ago by Manuel ▴ 50
0
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0
replies
347
views
Canvas doesn't identify the genotype of CNVs
Canvas
2.6 years ago by Manuel ▴ 50
8
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6
replies
1.3k
views
Having a deletion coordinates how to know in which gene this is?
NGS
updated 3.1 years ago by ▴ 830 • written 3.1 years ago by ▴ 50
0
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0
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1.3k
views
Comment: Comment: Having a deletion coordinates how to know in which gene this is?
3.1 years ago by Manuel ▴ 50
0
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1
reply
1.3k
views
Comment: Comment: Having a deletion coordinates how to know in which gene this is?
3.1 years ago by Manuel ▴ 50
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