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632
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Comment: Comment: adding transcripts ID to the REVEL score
13 months ago by Manuel ▴ 40
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1
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632
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adding transcripts ID to the REVEL score
annotation revel
13 months ago by Manuel ▴ 40
2
votes
1
reply
640
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Why SpliceAI does not annotate variants in different transcripts as SpliceAI lookup does.
SpliceAI
14 months ago by Manuel ▴ 40
2
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0
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640
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Answer: Answer: Why SpliceAI does not annotate variants in different transcripts as SpliceAI loo
14 months ago by Manuel ▴ 40
2
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2
replies
1.7k
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VEP with CONDA, installing annotation sources manually, what is the right directory to save the sources?
CONDA VEP
updated 16 months ago by 14k • written 16 months ago by ▴ 40
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1
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1.9k
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Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
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0
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1.9k
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Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
0
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0
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1.9k
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Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
8
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15
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1.9k
views
Interesting discrepancy between NGS (Illumina) and Sanger seq.
NGS sanger Illumina variant
updated 16 months ago by ★ 2.1k • written 16 months ago by ▴ 40
0
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1
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1.9k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
0
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1
reply
1.9k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
0
votes
1
reply
1.9k
views
Comment: Comment: Interesting discrepancy between NGS (Illumina) and Sanger seq.
16 months ago by Manuel ▴ 40
0
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0
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388
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ANNOVAR annotates delition and duplications with different co-ordinates
SNPEFF VEP ANNOVAR
17 months ago by Manuel ▴ 40
2
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1
reply
434
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The number of unique SNPs and indels in Clinvar
clinvar
updated 20 months ago by 142k • written 20 months ago by ▴ 40
0
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0
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1.4k
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Comment: Comment: A efficient way to simulate bedtools interset with python
21 months ago by Manuel ▴ 40
0
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0
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860
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Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
21 months ago by Manuel ▴ 40
0
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5
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860
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How to get the genomic coordinates of a transcripts in EntrezDirect ?
EntrezDirect
21 months ago by Manuel ▴ 40
0
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1
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860
views
Comment: Comment: How to get the genomic coordinates of a transcripts in EntrezDirect ?
21 months ago by Manuel ▴ 40
0
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0
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825
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Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
21 months ago by Manuel ▴ 40
0
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0
replies
355
views
How to import data from a bed file into GenomeIntervalTree.from_bed
GenomeIntervalTree
21 months ago by Manuel ▴ 40
6
votes
7
replies
1.4k
views
A efficient way to simulate bedtools interset with python
Bedtools
updated 21 months ago by 100k • written 21 months ago by ▴ 40
0
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1
reply
1.4k
views
Answer: Answer: A efficient way to simulate bedtools interset with python
21 months ago by Manuel ▴ 40
2
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1
reply
1.4k
views
Comment: Comment: A efficient way to simulate bedtools interset with python
21 months ago by Manuel ▴ 40
0
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1
reply
825
views
Comment: Comment: Easy way to compare the co-ordenates between RefSeq transcripts
21 months ago by Manuel ▴ 40
4
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4
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825
views
Easy way to compare the co-ordenates between RefSeq transcripts
Refseq
21 months ago by Manuel ▴ 40
0
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1
reply
426
views
A criteria to classify probes based on the DP of its bases
NGS
updated 21 months ago by 4.6k • written 21 months ago by ▴ 40
0
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1
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1.1k
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Comment: Comment: awk: cmd. line:1: fatal: division by zero attempted when calculating average dep
21 months ago by Manuel ▴ 40
0
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3
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1.1k
views
awk: cmd. line:1: fatal: division by zero attempted when calculating average depth when using subprocess
average_depth awk
updated 21 months ago by ▴ 740 • written 21 months ago by ▴ 40
2
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2
replies
660
views
Counting gaps that are less than a cutoff in a BAM file
BAM
21 months ago by Manuel ▴ 40
0
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0
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660
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Answer: Answer: Counting gaps that are less than a cutoff in a BAM file
21 months ago by Manuel ▴ 40
0
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0
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346
views
How to get the total number of unique genes affected by Pathogenic SNPs in dbSNP?
dbSNP
21 months ago by Manuel ▴ 40
0
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0
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334
views
What coverage means for DGV
DGV CNV
21 months ago by Manuel ▴ 40
0
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0
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783
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Comment: Comment: Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
22 months ago by Manuel ▴ 40
3
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2
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783
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Biomart doe not convert between RefSeq and Ensembl Transcripts in GRCh37?
Transcripts Ensembl GRCh37 RefSeq
22 months ago by Manuel ▴ 40
0
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1
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775
views
Comment: Comment: How to deal with different transcripts ID between versions
23 months ago by Manuel ▴ 40
1
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3
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775
views
How to deal with different transcripts ID between versions
gencode ensembl
updated 23 months ago by 43k • written 23 months ago by ▴ 40
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0
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1.1k
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Comment: Comment: How annotation can be validated
23 months ago by Manuel ▴ 40
0
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8
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1.1k
views
How annotation can be validated
VEP
23 months ago by Manuel ▴ 40
0
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0
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305
views
How to get the GT in the default output format of VEP
VEP
23 months ago by Manuel ▴ 40
0
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0
replies
675
views
VEP + LOFTEE in GEL
VEP LOFTEE
updated 23 months ago by 43k • written 23 months ago by ▴ 40
0
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0
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352
views
VEP and loftee. How to get the GT value
loftee VEP
23 months ago by Manuel ▴ 40
0
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0
replies
281
views
How can I know the proportion of two deletion that they are in cis in IGV
IGV
24 months ago by Manuel ▴ 40
0
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0
replies
397
views
What QUAL mean in CNVs called by canvas
canvas
2.0 years ago by Manuel ▴ 40
0
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0
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786
views
Comment: Comment: Error The tag ING/CSQ not found in the header using bcftools
2.0 years ago by Manuel ▴ 40
1
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2
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786
views
Error The tag ING/CSQ not found in the header using bcftools
vcf bcftools
2.0 years ago by Manuel ▴ 40
0
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0
replies
312
views
Canvas doesn't identify the genotype of CNVs
Canvas
2.1 years ago by Manuel ▴ 40
8
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6
replies
1.1k
views
Having a deletion coordinates how to know in which gene this is?
NGS
updated 2.5 years ago by ▴ 830 • written 2.5 years ago by ▴ 40
0
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0
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1.1k
views
Comment: Comment: Having a deletion coordinates how to know in which gene this is?
2.5 years ago by Manuel ▴ 40
0
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1
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1.1k
views
Comment: Comment: Having a deletion coordinates how to know in which gene this is?
2.5 years ago by Manuel ▴ 40
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