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370
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Installing VEP for a Specific Chromosome (e.g., Chromosome 1) is not possible??
VEP
updated 4 months ago by ★ 3.0k • written 4 months ago by ▴ 50
1
vote
1
reply
398
views
Issue with picard index in my one chr reference fasta file
SamToFastq
4 months ago by Manuel ▴ 50
0
votes
0
replies
969
views
Comment: Comment: adding transcripts ID to the REVEL score
2.2 years ago by Manuel ▴ 50
0
votes
1
reply
969
views
adding transcripts ID to the REVEL score
annotation revel
2.2 years ago by Manuel ▴ 50
2
votes
1
reply
986
views
Why SpliceAI does not annotate variants in different transcripts as SpliceAI lookup does.
SpliceAI
2.3 years ago by Manuel ▴ 50
2
votes
0
replies
986
views
Answer: Answer: Why SpliceAI does not annotate variants in different transcripts as SpliceAI loo
2.3 years ago by Manuel ▴ 50
2
votes
2
replies
2.5k
views
VEP with CONDA, installing annotation sources manually, what is the right directory to save the sources?
CONDA VEP
updated 2.5 years ago by 15k • written 2.5 years ago by ▴ 50
0
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1
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2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
0
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0
replies
2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
0
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0
replies
2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
8
votes
15
replies
2.8k
views
Interesting discrepancy between NGS (Illumina) and Sanger seq.
NGS sanger Illumina variant
updated 2.5 years ago by ★ 2.4k • written 2.5 years ago by ▴ 50
0
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1
reply
2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
0
votes
1
reply
2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
0
votes
1
reply
2.8k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
2.5 years ago by Manuel ▴ 50
0
votes
0
replies
589
views
ANNOVAR annotates delition and duplications with different co-ordinates
SNPEFF VEP ANNOVAR
2.6 years ago by Manuel ▴ 50
2
votes
1
reply
677
views
The number of unique SNPs and indels in Clinvar
clinvar
updated 2.8 years ago by 152k • written 2.8 years ago by ▴ 50
0
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0
replies
2.2k
views
Comment: Comment: A efficient way to simulate bedtools interset with python
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
1.2k
views
Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
2.9 years ago by Manuel ▴ 50
0
votes
5
replies
1.2k
views
How to get the genomic coordinates of a transcripts in EntrezDirect ?
EntrezDirect
2.9 years ago by Manuel ▴ 50
0
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1
reply
1.2k
views
Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
2.9 years ago by Manuel ▴ 50
0
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0
replies
1.3k
views
Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
475
views
How to import data from a bed file into GenomeIntervalTree.from_bed
GenomeIntervalTree
2.9 years ago by Manuel ▴ 50
6
votes
7
replies
2.2k
views
A efficient way to simulate bedtools interset with python
Bedtools
updated 2.9 years ago by 102k • written 2.9 years ago by ▴ 50
0
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1
reply
2.2k
views
Answer: Answer: A efficient way to simulate bedtools interset with python
2.9 years ago by Manuel ▴ 50
2
votes
1
reply
2.2k
views
Comment: Comment: A efficient way to simulate bedtools interset with python
2.9 years ago by Manuel ▴ 50
0
votes
1
reply
1.3k
views
Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
2.9 years ago by Manuel ▴ 50
4
votes
4
replies
1.3k
views
Easy way to compare the co-ordenates between RefSeq transcripts
Refseq
2.9 years ago by Manuel ▴ 50
0
votes
1
reply
641
views
A criteria to classify probes based on the DP of its bases
NGS
updated 2.9 years ago by 5.1k • written 2.9 years ago by ▴ 50
0
votes
1
reply
1.6k
views
Comment: Comment: awk: cmd. line:1: fatal: division by zero attempted when calculating average dep
2.9 years ago by Manuel ▴ 50
0
votes
3
replies
1.6k
views
awk: cmd. line:1: fatal: division by zero attempted when calculating average depth when using subprocess
average_depth awk
updated 2.9 years ago by ▴ 870 • written 2.9 years ago by ▴ 50
2
votes
2
replies
897
views
Counting gaps that are less than a cutoff in a BAM file
BAM
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
897
views
Answer: Answer: Counting gaps that are less than a cutoff in a BAM file
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
494
views
How to get the total number of unique genes affected by Pathogenic SNPs in dbSNP?
dbSNP
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
469
views
What coverage means for DGV
DGV CNV
2.9 years ago by Manuel ▴ 50
0
votes
0
replies
1.3k
views
Comment: Comment: Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
2.9 years ago by Manuel ▴ 50
3
votes
2
replies
1.3k
views
Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
Transcripts Ensembl GRCh37 RefSeq
2.9 years ago by Manuel ▴ 50
0
votes
1
reply
1.1k
views
Comment: Comment: How to deal with different transcripts ID between versions
3.1 years ago by Manuel ▴ 50
1
vote
3
replies
1.1k
views
How to deal with different transcripts ID between versions
gencode ensembl
updated 3.1 years ago by 45k • written 3.1 years ago by ▴ 50
0
votes
0
replies
1.7k
views
Comment: Comment: How annotation can be validated
3.1 years ago by Manuel ▴ 50
0
votes
8
replies
1.7k
views
How annotation can be validated
VEP
3.1 years ago by Manuel ▴ 50
0
votes
0
replies
412
views
How to get the GT in the default output format of VEP
VEP
3.1 years ago by Manuel ▴ 50
1
vote
0
replies
1.3k
views
VEP + LOFTEE in GEL
VEP LOFTEE
updated 3.1 years ago by 45k • written 3.1 years ago by ▴ 50
0
votes
0
replies
520
views
VEP and loftee. How to get the GT value
loftee VEP
3.1 years ago by Manuel ▴ 50
0
votes
0
replies
376
views
How can I know the proportion of two deletion that they are in cis in IGV
IGV
3.1 years ago by Manuel ▴ 50
0
votes
0
replies
517
views
What QUAL mean in CNVs called by canvas
canvas
3.1 years ago by Manuel ▴ 50
0
votes
0
replies
1.1k
views
Comment: Comment: Error The tag ING/CSQ not found in the header using bcftools
3.1 years ago by Manuel ▴ 50
1
vote
2
replies
1.1k
views
Error The tag ING/CSQ not found in the header using bcftools
vcf bcftools
3.1 years ago by Manuel ▴ 50
0
votes
0
replies
434
views
Canvas doesn't identify the genotype of CNVs
Canvas
3.2 years ago by Manuel ▴ 50
8
votes
6
replies
1.6k
views
Having a deletion coordinates how to know in which gene this is?
NGS
updated 3.6 years ago by ▴ 840 • written 3.6 years ago by ▴ 50
0
votes
0
replies
1.6k
views
Comment: Comment: Having a deletion coordinates how to know in which gene this is?
3.6 years ago by Manuel ▴ 50
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