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Comment: C: Mutect2 somatic hemizygote variant on chrX
4.5 years ago by cocchi.e89 ▴ 290
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2
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1.1k
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Mutect2 somatic hemizygote variant on chrX
mutect2 gatk somatic chromosome-X hemizygosis
4.5 years ago by cocchi.e89 ▴ 290
0
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0
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1.3k
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GATK mutect2 missing variant
gatk mutect2 bed mutation
4.6 years ago by cocchi.e89 ▴ 290
1
vote
1
reply
1.7k
views
VEP and gnomAD AF inconsistencies
vep ensembl gnomad AF dbNSFP
updated 4.6 years ago by ★ 2.4k • written 4.6 years ago by ▴ 290
2
votes
4
replies
2.1k
views
mosdepth coverage so slow - fast way to get coverage of restricted regions WES
mosdepth coverage exome WES
updated 4.6 years ago by 20 • written 4.6 years ago by ▴ 290
3
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1
reply
1.7k
views
VEP 100 and GRCh37
vep grch37 fasta ensembl
updated 4.6 years ago by ★ 2.4k • written 4.6 years ago by ▴ 290
0
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1
reply
1.2k
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Comment: C: identify highly mutated regions in WES/WGS samples
4.6 years ago by cocchi.e89 ▴ 290
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0
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1.2k
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Comment: C: identify highly mutated regions in WES/WGS samples
4.6 years ago by cocchi.e89 ▴ 290
2
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4
replies
1.2k
views
identify highly mutated regions in WES/WGS samples
mutation hotspot wes wgs
updated 4.6 years ago by 13k • written 4.6 years ago by ▴ 290
0
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1
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2.1k
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Comment: C: mosdepth coverage so slow - fast way to get coverage of restricted regions WES
4.6 years ago by cocchi.e89 ▴ 290
1
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2
replies
3.1k
views
bcftools pipe generated file from first command with second
bcftools pipe vcf
updated 3.0 years ago by • 0 • written 4.6 years ago by ▴ 290
0
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0
replies
2.0k
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Comment: C: filter multisample VCF based on Altered AD values
4.6 years ago by cocchi.e89 ▴ 290
0
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1
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2.0k
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Comment: C: filter multisample VCF based on Altered AD values
4.6 years ago by cocchi.e89 ▴ 290
1
vote
1
reply
1.5k
views
determine exon number from variant genomic coordinates
exon coordinates variant human exome
updated 4.6 years ago by ★ 1.8k • written 4.6 years ago by ▴ 290
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1
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1.4k
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Comment: C: VEP MutationAssessor output
4.7 years ago by cocchi.e89 ▴ 290
0
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1
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1.4k
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Comment: C: VEP MutationAssessor output
4.7 years ago by cocchi.e89 ▴ 290
0
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5
replies
1.4k
views
VEP MutationAssessor output
vep MutationAssessor variant human
updated 4.7 years ago by ★ 2.4k • written 4.7 years ago by ▴ 290
0
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1
reply
1.2k
views
Comment: C: protein 3D model not showing all AA residues
4.8 years ago by cocchi.e89 ▴ 290
0
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1
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1.2k
views
Comment: C: protein 3D model not showing all AA residues
4.8 years ago by cocchi.e89 ▴ 290
5
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6
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1.2k
views
protein 3D model not showing all AA residues
phyre2 protein model mutation
updated 4.8 years ago by ★ 28k • written 4.8 years ago by ▴ 290
0
votes
2
replies
1.3k
views
retrieve AA sequence change from a frameshift mutation
sequence protein visualization frameshift mutation
updated 4.8 years ago by ▴ 70 • written 4.8 years ago by ▴ 290
0
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1
reply
1.2k
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merge VCF single variants G>A and C>A into GC>AA
vcf variants exome hgvs
updated 4.9 years ago by ▴ 100 • written 4.9 years ago by ▴ 290
1
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4
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4.3k
views
InterVar and Varsome discrepancies in ACMG classification
intervar varsome acmg guidelines
updated 5.4 years ago by ★ 1.4k • written 5.6 years ago by ▴ 290
2
votes
3
replies
1.0k
views
protein domain start-stop codons database
codon database domain vep
updated 5.4 years ago by 148k • written 5.4 years ago by ▴ 290
1
vote
1
reply
2.9k
views
Comment: C: Get genomic coordinates for protein domain
5.4 years ago by cocchi.e89 ▴ 290
0
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0
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2.4k
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Comment: C: protein domain "official" DB
5.4 years ago by cocchi.e89 ▴ 290
0
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1
reply
2.4k
views
Comment: C: protein domain "official" DB
5.4 years ago by cocchi.e89 ▴ 290
1
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4
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2.4k
views
protein domain "official" DB
vep domains protein human variation
5.4 years ago by cocchi.e89 ▴ 290
0
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0
replies
1.2k
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Comment: C: uniprot variant classification DB retireve
5.4 years ago by cocchi.e89 ▴ 290
1
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3
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1.2k
views
uniprot variant classification DB retireve
uniprot variant vep ensembl
updated 5.4 years ago by ★ 2.4k • written 5.4 years ago by ▴ 290
3
votes
4
replies
1.8k
views
how can a DELETION be not a NULL variant?
deletion variant exome indel acmg
updated 5.4 years ago by 27k • written 5.4 years ago by ▴ 290
0
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0
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1.8k
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Comment: C: how can a DELETION be not a NULL variant?
5.4 years ago by cocchi.e89 ▴ 290
0
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0
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1.2k
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Comment: C: Retrieve base position/coordinates due to AA position on a protein
5.5 years ago by cocchi.e89 ▴ 290
0
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1
reply
4.4k
views
Comment: C: How to find the chromosomal coordinate of a mutation in a gene?
5.5 years ago by cocchi.e89 ▴ 290
0
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2
replies
1.2k
views
Retrieve base position/coordinates due to AA position on a protein
base position coordinates aminoacid
5.5 years ago by cocchi.e89 ▴ 290
0
votes
1
reply
1.8k
views
patients hg19 VEP Fasta and CACHE GRCh37
vep ensembl grch37 hg19
updated 5.5 years ago by 20 • written 5.6 years ago by ▴ 290
0
votes
0
replies
901
views
VARIANT effect retrieving
variant-effect snv indel
updated 3 months ago by 44k • written 5.7 years ago by ▴ 290
0
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0
replies
1.6k
views
Comment: C: UCSC different exome sets per each gene
5.6 years ago by cocchi.e89 ▴ 290
0
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2
replies
1.6k
views
Comment: C: UCSC different exome sets per each gene
5.6 years ago by cocchi.e89 ▴ 290
0
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1
reply
1.6k
views
Comment: C: UCSC different exome sets per each gene
5.6 years ago by cocchi.e89 ▴ 290
1
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8
replies
1.6k
views
UCSC different exome sets per each gene
ucsc exomes gene coordinates
updated 5.6 years ago by ▴ 670 • written 5.6 years ago by ▴ 290
0
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0
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1.6k
views
Comment: C: UCSC different exome sets per each gene
5.6 years ago by cocchi.e89 ▴ 290
1
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0
replies
4.3k
views
Comment: C: InterVar and Varsome discrepancies in ACMG classification
5.6 years ago by cocchi.e89 ▴ 290
0
votes
0
replies
2.4k
views
Comment: C: hom/het definition from Allelic Depth counts
5.6 years ago by cocchi.e89 ▴ 290
2
votes
2
replies
2.4k
views
hom/het definition from Allelic Depth counts
hom het AD count variant
updated 5.6 years ago by ★ 2.6k • written 5.6 years ago by ▴ 290
3
votes
1
reply
1.5k
views
ensembl VEP variant not annotated
ensembl vep variants annotation
5.6 years ago by cocchi.e89 ▴ 290
1
vote
4
replies
1.3k
views
little discrepancies gnomAD DB vs. website
gnomad exomes genomes frequency variants
updated 5.6 years ago by ▴ 50 • written 5.6 years ago by ▴ 290
0
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0
replies
1.3k
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Comment: C: little discrepancies gnomAD DB vs. website
5.6 years ago by cocchi.e89 ▴ 290
0
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0
replies
1.7k
views
Comment: C: New Variants Effect Prediction Tools
5.6 years ago by cocchi.e89 ▴ 290
1
vote
2
replies
2.5k
views
VEP dbNSFP plugin GRCh37
vep ensembl dbNSFP plugin anotation
updated 5.6 years ago by 24k • written 5.6 years ago by ▴ 290
129 results • Page 2 of 3
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