NGS results in comparison with classic Sanger sequencing.

<p>The seven out of 4,096 analyzed positions comprise four heterozygous SNPs as well as three homozygous positions that had been misinterpreted by at least one experiment. 1^st line: NGS sequence call after alignment and homopolymer filtering; 2^nd line: Σ, number of sequence fragments covering the respective position; 3^rd line: percentage of the calls for the major allele. Erroneous positions are highlighted in bold face.</p><p>*SAMtools prints the allele counts before it applies the homopolymer filter but calls the genotype afterwards. Allele frequencies and predicted genotype may hence differ.</p><p>**Please note that SAMtools only reports InDels supported by a sufficient number of reads. For the subsets in which this was not the case, we calculated the percentage of the RefSeq allele with all counts for both positions and display the mean coverage over both positions as Σ.