| 摘要 |
The invention relates to a computer implemented method (200) for generating a variant call file from an input file with aligned data sequences that have been aligned with a reference data sequence, the method comprises a aggregating process (214) generating aggregated data linked to positions of the reference data sequence from aligned data sequences; and auxiliary aggregated data for variants linked to positions of the reference data sequence. The auxiliary aggregated data is indicative for sequence parts of aligned data sequences which bases perfectly match the reference data sequence from an end of the aligned data sequence to a variant. In a subsequent realignment process (216) "incorrect" mappings are detected and the associated auxiliary aggregated data is used to correct the aggregated data of the positions on the reference corresponding to the "incorrect" mapping. |
