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Good morning,
I've been doing testing using JANNOVAR to convert variants from transcript-oriented HGVS format into genomic oriented VCF files.
My tests with deletions and SNPs have been successful, but I've gotten unexpected results with insertions and duplication. Would you please take a look at the two examples below?
I generated by expected result by manual interrogation of NCBI's genome browser and verifying the variant conversion using https://variantvalidator.org
Good morning,
I've been doing testing using JANNOVAR to convert variants from transcript-oriented HGVS format into genomic oriented VCF files.
My tests with deletions and SNPs have been successful, but I've gotten unexpected results with insertions and duplication. Would you please take a look at the two examples below?
I generated by expected result by manual interrogation of NCBI's genome browser and verifying the variant conversion using https://variantvalidator.org
Conversions are in GRCh38 (human) genome.
Duplication:
NM_001129765.1:c.696dupG
Expected X:152867579 A>AG
Observed: X:152867580 A>AG
Insertion:
NM_001129765.1:c.696_697insT
Expected: X:152867580 G>GT
Observed: X:152867580 A>AT
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