From table file containing HGVS column, it returns a fixed size sequence
Project description
hvgs2seq
From a tabulated file, with an hgvs column (e.g. NM_000142.4:c.1953G>A), build a sequence of a
fixed size (31 by default) around the variant.
- the hgvs could be splitted in two columns (e.g. col 1:
NM_000142.4and col 2:c.1953G>A) - when the variant is an indel largest than the specified size, the insertion/deletion will be truncated
- when the variant is located at the edge of the transcript, it will not be centered.
- not all hgvs nomenclature is covered.
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