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4
votes
2
replies
3.3k
views
VEP FASTA "toplevel" vs "primary_assembly"
vep
ensembl
fasta
5.6 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
812
views
difference between Copy Number 0 and INDEL 1000genomes
1000g
indel
sv
cnv
5.7 years ago by
cocchi.e89
▴ 290
2
votes
1
reply
857
views
1000 genomes genotypes interpretation
1000g
genotype
hom
het
5.7 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
1.7k
views
Comment:
C: New Variants Effect Prediction Tools
5.7 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
4.2k
views
Comment:
C: table to convert RS names to CHR-POS-REF-ALT (es GnomAD)
5.7 years ago by
cocchi.e89
▴ 290
1
vote
4
replies
4.2k
views
table to convert RS names to CHR-POS-REF-ALT (es GnomAD)
rs
variant
names
nomeclature
gnomad
5.7 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
1.7k
views
Comment:
C: New Variants Effect Prediction Tools
5.7 years ago by
cocchi.e89
▴ 290
5
votes
9
replies
1.7k
views
New Variants Effect Prediction Tools
variant-effect
snv
indel
updated 3 months ago by
Ram
44k • written 5.7 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
1.7k
views
Comment:
C: New Variants Effect Prediction Tools
5.7 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
1.9k
views
Comment:
C: variant REF-ALT conversion to HGVS.c
5.7 years ago by
cocchi.e89
▴ 290
3
votes
3
replies
1.9k
views
variant REF-ALT conversion to HGVS.c
gene
hgvs
nomeclature
variants
updated 5.7 years ago by
Pierre Lindenbaum
164k • written 5.7 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
954
views
Comment:
C: Variant Effect Prediction Databases
5.7 years ago by
cocchi.e89
▴ 290
0
votes
2
replies
954
views
Variant Effect Prediction Databases
variant-effect-prediction
updated 3 months ago by
Ram
44k • written 5.7 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
1.2k
views
Comment:
C: all non-ALT position in a VCF are non-variants?
5.8 years ago by
cocchi.e89
▴ 290
0
votes
2
replies
1.2k
views
all non-ALT position in a VCF are non-variants?
vcf
variant
alt
altered
updated 5.8 years ago by
Pierre Lindenbaum
164k • written 5.8 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
2.0k
views
Comment:
C: CLINVAR multiple molecular consequences
5.8 years ago by
cocchi.e89
▴ 290
2
votes
4
replies
2.0k
views
CLINVAR multiple molecular consequences
molecular-consequence
variant-effect
clinvar
updated 3 months ago by
Ram
44k • written 5.8 years ago by
cocchi.e89
▴ 290
1
vote
1
reply
935
views
clinvar "Affects" meaning
clinvar
affects
meaning
5.8 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
1.0k
views
Loss Of Function known affected genes
lof
variants
acmg
clinical annotation
5.9 years ago by
cocchi.e89
▴ 290
1
vote
1
reply
3.3k
views
genetic coordinates hg19/GRCh37 latest version
refseq
gene
coordinates
hg19
grch37
5.9 years ago by
cocchi.e89
▴ 290
1
vote
1
reply
8.7k
views
PolyPhen Humdiv vs HumVar discrepancies
polyphen
humdiv
humvar
variant
updated 5.9 years ago by
manuel.belmadani
★ 1.4k • written 5.9 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
10k
views
Comment:
C: Polyphen-2 Classifier Model
5.9 years ago by
cocchi.e89
▴ 290
0
votes
0
replies
802
views
KINSHIP triplets output
KINSHIP
genetic relatedness
analysis
.kin0
5.9 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
4.7k
views
Comment:
C: gnomaAD exome and genome AF differences
5.9 years ago by
cocchi.e89
▴ 290
0
votes
2
replies
4.7k
views
Comment:
C: gnomaAD exome and genome AF differences
5.9 years ago by
cocchi.e89
▴ 290
0
votes
8
replies
4.7k
views
gnomaAD exome and genome AF differences
gnomAD
exome
genome
updated 3.4 years ago by
humzakhan340
• 0 • written 5.9 years ago by
cocchi.e89
▴ 290
0
votes
1
reply
3.7k
views
Comment:
C: updated clinical variant annotation software and databases
5.9 years ago by
cocchi.e89
▴ 290
2
votes
3
replies
3.7k
views
updated clinical variant annotation software and databases
clinvar
clinical annotation
annovar
ngs
exome
updated 5.9 years ago by
manuel.belmadani
★ 1.4k • written 5.9 years ago by
cocchi.e89
▴ 290
1
vote
0
replies
1.7k
views
get B allele frequency (BAF) and lor R ratio (LRR) in LINUX
genome
linux
LRR
BAF
5.9 years ago by
cocchi.e89
▴ 290
129 results • Page
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