Dear Forum,
I was wondering if there was a tool that could convert some HGVS expressions into all its synonymous HGVS expressions, also taking into consideration additional information on the reference sequence...
Some artificial examples:
1)
627364_627372delACTGTCTACinsGT
can also be expressed by:
627364A>G
627365_627365delC
627368_627372delGTCTAC
or by:
627364_627366delACT
627369_627372delCTAC
2)
457845_457848dupAGC
is equivalent to:
457845_457846insAGC
but vice versa only if the reference sequence has the bases "AGC" on positions 457843 to 457845.
Is there any tool to calculate all possible synonyms for given HGVS expressions+sequences?
I am looking forward to your answers!
Bests,
Roman
I was wondering if there was a tool that could convert some HGVS expressions into all its synonymous HGVS expressions, also taking into consideration additional information on the reference sequence...
Some artificial examples:
1)
627364_627372delACTGTCTACinsGT
can also be expressed by:
627364A>G
627365_627365delC
627368_627372delGTCTAC
or by:
627364_627366delACT
627369_627372delCTAC
2)
457845_457848dupAGC
is equivalent to:
457845_457846insAGC
but vice versa only if the reference sequence has the bases "AGC" on positions 457843 to 457845.
Is there any tool to calculate all possible synonyms for given HGVS expressions+sequences?
I am looking forward to your answers!
Bests,
Roman
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