Sample Identification Analysis

Sample identification analysis (optional) is available for human DNA samples through the spike-in Sample ID panel. The analysis assigns a unique fingerprint to each sample, which enables sample tracking. The fingerprint contains nine letters. The first letter represents sample sex (F for female, M for male, or N for no call); the remaining eight letters represent the genotypes at eight predetermined loci covered by the sample ID panel, following the IUPAC coding convention. The genotyping is performed by calling Pisces in germline mode with the same thresholds (Germline mode) or default germline thresholds (Somatic mode).

Homologous genes on chrX (AMELX) and chrY (AMELY) are used for determining biological sex. Sex determination is decided by the equation:

, where AMEX = read counts of AMEX amplicon and AMEY = read counts of AMEY amplicon.

If r≥0.2, then the sample is male;. Otherwise, the sample is female. Total coverage of AMEX and AMEY (AMEX +AMEY) must be ≥ 30 to have confidence in the biological sex decision, otherwise, sex cannot be determined.