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, 07:19, 23 October 2019
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| There is now an additional option -a which decomposes non block substitutions into its constituent SNPs and indels. (kindly added by [[https://github.com/holtgrewe holtgrewe@github]]) <br> | | There is now an additional option -a which decomposes non block substitutions into its constituent SNPs and indels. (kindly added by [[https://github.com/holtgrewe holtgrewe@github]]) <br> |
| There is no exact solution and this decomposition is based on the best guess outcome using a Needleman-Wunsch algorithm. <br> | | There is no exact solution and this decomposition is based on the best guess outcome using a Needleman-Wunsch algorithm. <br> |
− | You might also want to check out [https://github.com/vcflib/vcflib#vcfallelicprimitives vcfallelicprimitives]. | + | You might also want to check out [https://github.com/vcflib/vcflib#vcfallelicprimitives vcfallelicprimitives]. <br> |
| + | <br> |
| + | There is now an additional option -m and -d which ensures that some MNVs are not decomposed. (kindly added by [[https://github.com/jaudoux jaudoux@github]]) <br> |
| + | The motivation is from<br> |
| + | *Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations https://www.biorxiv.org/content/10.1101/258723v2.full<br> |
| + | *Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes https://www.biorxiv.org/content/10.1101/573378v2.full<br> |
| </div> | | </div> |
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