Table 1.
Filtering strategies for identification of genetic variants associated with MMD.
| Analysis | Patients | Region | Depth | Allele frequency | Comments |
|---|---|---|---|---|---|
| 1. Family-based, dominant model | 4, 5, 6 | Exon/splice site | >5 | <0.0001 | Strict frequency filter justified by dominant disease model |
| 2. De novo | 9 | Exon/splice site | >9 | <0.01 | Higher depth to avoid false positives. Mutation rate set to 10−8 |
| 3. Autozygosity | 1, 2, 9 | Exon/splice site | >5 | <0.015 | Relaxed frequency filter justified by autozygous disease model |
| 4. Candidate genes | All patients | Exon/splice site | >5 | <0.01 | Selected genes from the literature and analyses 1-3 |