From: Medical implications of technical accuracy in genome sequencing
Reason for low confidence | Percentage of bases |
---|---|
CNVs or other SVs that have been reported in dbVar for NA12878 | 47 |
STRs in RepSeqSTRdb | 34 |
Regions with known segmental duplications | 15 |
Simple Repeats from repeat masker | 1.7 |
<3 datasets have at least 5 reads with mapping quality >10 | 1.3 |
Abnormal allele balance | 0.17 |
Unresolved conflicting genotypes after arbitration | 0.03 |
Calls with support from <3 datasets after arbitration | 0.0082 |
Local alignment problems | 0.0041 |