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FunGeST / Palimpsest

An R package for studying mutational signatures and structural variant signatures along clonal evolution in cancer.
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Insertion for SV signature #23

Closed xtmgah closed 5 years ago

xtmgah commented 5 years ago

Hello:

Do you know why insertion were not included in the SV signature analysis? There are only four type SVs including Deletion, Insertion, Dup, inter-chromosomal translocation. Any reason to exclude the Insertion? Also, did intra-chromosomal translocation should included as "Inversion"? Thanks.

FunGeST commented 5 years ago

Hi,

Insertions may actually correspond to diverse type of events, e.g. viral insertions, small DNA sequences inserted by repair mechanisms, or complex SVs not fitting within the 4 other categories. That is why we did not include these events which are poorly defined in our signature framework. For your second question, indeed any intra-chromosomal event will fit within the "deletion", "duplication" or "inversion" category.

Best, Eric