Quality section

The Quality section:

1. Demonstrates the family tree with zygosity status and the overall variant quality indicated for each sample. Zygosity (HET, HOM, HEMI, or REF) is marked inside the pedigree symbol, and variant quality grade (H, M, or L) is denoted on the side.

The variant quality score in the proband is highlighted in the section title. Upon 32.0+, the title also features variant caller notation.

2. Outlines the major variant quality parameters underlying the general grade in each sequenced individual:

• SNV/Indel variants:

  • Base Quality,

  • Depth,

  • Mapping Quality,

  • Genotype Quality.
• CNVs:

  • Copy Number,

  • CNV Quality,

  • Size,

  • Bin Count.
• STRs:

  • Depth;

  • Repeat Number,

  • Repeat Length.

3. Illustrates the allele fraction per sample in a pie chart. Not relevant for CNVs.

To change the sample in review for the particular variant, click on the corresponding icon in the family tree.