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0
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2
replies
1.0k
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Retrieve base position/coordinates due to AA position on a protein
base position coordinates aminoacid
4.9 years ago by cocchi.e89 ▴ 270
0
votes
1
reply
1.6k
views
patients hg19 VEP Fasta and CACHE GRCh37
vep ensembl grch37 hg19
updated 4.9 years ago by 20 • written 5.0 years ago by ▴ 270
0
votes
0
replies
832
views
VARIANT effect retrieving
variant snv indel effect
updated 4.9 years ago by 20 • written 5.1 years ago by ▴ 270
1
vote
8
replies
1.3k
views
UCSC different exome sets per each gene
ucsc exomes gene coordinates
updated 4.9 years ago by ▴ 650 • written 4.9 years ago by ▴ 270
2
votes
2
replies
2.2k
views
hom/het definition from Allelic Depth counts
hom het AD count variant
updated 5.0 years ago by ★ 2.5k • written 5.0 years ago by ▴ 270
3
votes
1
reply
1.4k
views
ensembl VEP variant not annotated
ensembl vep variants annotation
5.0 years ago by cocchi.e89 ▴ 270
1
vote
4
replies
1.2k
views
little discrepancies gnomAD DB vs. website
gnomad exomes genomes frequency variants
updated 5.0 years ago by ▴ 50 • written 5.0 years ago by ▴ 270
1
vote
2
replies
2.4k
views
VEP dbNSFP plugin GRCh37
vep ensembl dbNSFP plugin anotation
updated 5.0 years ago by 23k • written 5.0 years ago by ▴ 270
3
votes
2
replies
3.0k
views
VEP FASTA "toplevel" vs "primary_assembly"
vep ensembl fasta
5.0 years ago by cocchi.e89 ▴ 270
0
votes
1
reply
739
views
difference between Copy Number 0 and INDEL 1000genomes
1000g indel sv cnv
5.0 years ago by cocchi.e89 ▴ 270
2
votes
1
reply
765
views
1000 genomes genotypes interpretation
1000g genotype hom het
5.0 years ago by cocchi.e89 ▴ 270
1
vote
4
replies
3.9k
views
table to convert RS names to CHR-POS-REF-ALT (es GnomAD)
rs variant names nomeclature gnomad
5.1 years ago by cocchi.e89 ▴ 270
5
votes
9
replies
1.5k
views
New Variants Effect Prediction Tools
variant snv indel effect
updated 5.1 years ago by 23k • written 5.1 years ago by ▴ 270
3
votes
3
replies
1.7k
views
variant REF-ALT conversion to HGVS.c
gene hgvs nomeclature variants
updated 5.1 years ago by 161k • written 5.1 years ago by ▴ 270
0
votes
2
replies
849
views
Variant Effect Prediction Databases
variant effect prediction database
5.1 years ago by cocchi.e89 ▴ 270
0
votes
2
replies
1.1k
views
all non-ALT position in a VCF are non-variants?
vcf variant alt altered
updated 5.1 years ago by 161k • written 5.1 years ago by ▴ 270
2
votes
4
replies
1.7k
views
CLINVAR multiple molecular consequences
clinvar molecular consequence effect variant
5.2 years ago by cocchi.e89 ▴ 270
1
vote
1
reply
850
views
clinvar "Affects" meaning
clinvar affects meaning
5.2 years ago by cocchi.e89 ▴ 270
0
votes
0
replies
964
views
Loss Of Function known affected genes
lof variants acmg clinical annotation
5.2 years ago by cocchi.e89 ▴ 270
1
vote
1
reply
3.2k
views
genetic coordinates hg19/GRCh37 latest version
refseq gene coordinates hg19 grch37
5.2 years ago by cocchi.e89 ▴ 270
1
vote
1
reply
7.9k
views
PolyPhen Humdiv vs HumVar discrepancies
polyphen humdiv humvar variant
updated 5.2 years ago by ★ 1.3k • written 5.2 years ago by ▴ 270
0
votes
0
replies
746
views
KINSHIP triplets output
KINSHIP genetic relatedness analysis .kin0
5.3 years ago by cocchi.e89 ▴ 270
0
votes
8
replies
4.3k
views
gnomaAD exome and genome AF differences
gnomAD exome genome
updated 2.8 years ago by • 0 • written 5.3 years ago by ▴ 270
2
votes
3
replies
3.3k
views
updated clinical variant annotation software and databases
clinvar clinical annotation annovar ngs exome
updated 5.3 years ago by ★ 1.3k • written 5.3 years ago by ▴ 270
1
vote
0
replies
1.6k
views
get B allele frequency (BAF) and lor R ratio (LRR) in LINUX
genome linux LRR BAF
5.3 years ago by cocchi.e89 ▴ 270
75 results • Page 2 of 2
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