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Just allele sequence
There are some exceptional cases: - if there is an insertion or ? if chrom cannot be looked up in FASTA
example - G
Frequency
Current header - "FREQ" (outside of CSQ - directly under INFO)
Updated header - frequency field under CSQ coming from --custom annotation fror gnomAD and --af_1kg flag for 1000Genomes
gnoamd_genomes -
Same as gnomad_exomes except it will have gnomad_genomes prefix.
1000Genoems -
AF|AFR_AF|AMR_AF|EAS_AF|EUR_AF|SAS_AF
example -
0.7051|0.9032|0.6354|0.8532|0.4115|0.636
Primary source
Current header - "source" (value taken from VCF file header)
Updated header - "SOURCE" (an INFO field - can be read from the INFO field for each variant)
example -
1 33878 ENSVVVI00100001 T G . . SOURCE=Ensembl;CSQ=G|missense_variant&splice_region_variant....
The text was updated successfully, but these errors were encountered:
We need to update how hypsipyle parse VEP annotations for some fields as described -
Phenotype
Current header - "VAR_SYNONYMS"
Updated header - "PHENOTYPES"
pattern -
<phenotype>+<source>+<feature affected>
Multiple phenotype is separated by an
&
example -
Alternative names (data not available in 110 because of VEP cache issue)
Current header - none
Updated header - "VAR_SYNONYMS"
pattern -
<source>::<name>&<name>..
Multiple synonyms separated by
--
Ancestral allele
Current header - none
Updated header - "AA"
Just allele sequence
There are some exceptional cases:
-
if there is an insertion or?
if chrom cannot be looked up in FASTAexample -
G
Frequency
Current header - "FREQ" (outside of CSQ - directly under INFO)
Updated header - frequency field under CSQ coming from --custom annotation fror gnomAD and --af_1kg flag for 1000Genomes
full list of fields:
gnoamd_exomes -
example -
gnoamd_genomes -
Same as gnomad_exomes except it will have
gnomad_genomes
prefix.1000Genoems -
example -
Primary source
Current header - "source" (value taken from VCF file header)
Updated header - "SOURCE" (an INFO field - can be read from the INFO field for each variant)
example -
The text was updated successfully, but these errors were encountered: