3.11.9. Copy Number Probability/Segregation

This algorithm computes the expected copy number for each called CNV. It also identifies other samples likely to share the CNV and, for trios, it computes the probability that the CNV is present in the mother/father.

Requirements

CNVs must be called prior to running this algorithm.

Options

The dialog allows the user to specify the following options:

  • Minimum similarity coefficient: Threshold for identifying CNV segregation.

Output to the CNVs Table

The following fields will be added to the CNVs table:

  • Estimated Copy Number: Most probable copy number for the region.

  • Copy Number Probability: Probability of expected copy number.

  • Samples Sharing Event: List of samples that have a similar estimated copy number at this region.

  • Father Copy Number: The father’s most probable copy number for the region.

  • Father Copy Number Probability: Probability of the father’s expected copy number.

  • Father Match Probability: Probability that father has a similar copy number to the proband.

  • Mother Copy Number: The mother’s most probable copy number for the region.

  • Mother Copy Number Probability: Probability of the mother’s expected copy number.

  • Mother Match Probability: Probability that mother has a similar copy number to the proband.