Open main menu

Genome Analysis Wiki β



494 bytes added, 07:19, 23 October 2019
Decompose biallelic block substitutions
There is now an additional option -a which decomposes non block substitutions into its constituent SNPs and indels. (kindly added by [[ holtgrewe@github]]) <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 [ vcfallelicprimitives].<br><br>There is now an additional option -m and -d which ensures that some MNVs are not decomposed. (kindly added by [[ jaudoux@github]]) <br>The motivation is from<br>*Exome-wide assessment of the functional impact and pathogenicity of multi-nucleotide mutations<br>*Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes<br>