BedAnno

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修正repeat sequence时跨越不同exon

3

如果上游exon末端和下游exon首端序列相同，上游exon末端的变异会错误的识别为repeat sequence，基于3‘规则被移动到下游exon的首端。 示例输入： ``` 9 37432131 37432133 TG . ``` 错误注释结果`NM_012203.1:c.862TG[3>2] (std: c.862TG[2] alt: c.866_867delTG )` 参考[NM_012203.1:c.864_865delTG](https://mutalyzer.nl/name-checker?description=NM_012203.1%3Ac.864_865delTG) ``` Sequence "TG" at position 905_906 was not corrected to "TG" at position...

liserjrqlxue

Dear developer(s), in README two fields "BlockAttr" and "GenePartsSO" but I didn't find these formats in other databases. The GenePartSO I guess should be a concept similar to "Sequence Ontology"...

viktorxia

An standard_gHGVS and standard_cHGVS need to be added to final returned BedAnno::Anno object keys to maintain this format of HGVS string.

ltnetcase