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Allele balance filter

The allele balance is defined as the ratio of reads that support the alternative allele in a next-generation sequencing data set. In a usual vcf file this ratio can be computed by the information encoded in the AD, AO, and DP flag. For heterozygous genotypes and especially de novo calls the allele balance is also often a valuable indicator for quality. Krumm et al. showed e.g. that almost all candidates could be validated by Sanger, if the allelic balance was restricted to the inteval [0.3,0.7].

In GeneTalk you can now use the allelic balance to refine you call set to high confindence candidates. Enjoy!

 

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