Variant filtering based on inheritance model, clinical and bioinformatics analysis | ||||||
---|---|---|---|---|---|---|
Post-inheritance model filtering | Post-alteration review | Post-medical review | Candidate genes | |||
Total | Post-clinical associated review | |||||
Characterized | Clinically novel | Total | ||||
Autosomal dominant genes (alterations) | 12(13) | 2(2) | 0(0) | 1(1) | 1(1) | 0(0) |
Autosomal recessive genes (alterations) | 41 (57) | 32(45) | 1(1) | 23(34) | 24(35) | 1(1) |
X-linked recessive genes (alterations) | 0(0) | 0(0) | 0(0) | 0(0) | 0(0) | 0(0) |
X-linked dominant genes (alterations) | 0(0) | 0(0) | 0(0) | 0(0) | 0(0) | 0(0) |
Y-linked genes (alterations) | N/A | N/A | N/A | N/A | N/A | N/A |
Total genes (alterations) | 53(70) | 34(47) | 1(1) | 24(35) | 25(36) | 1*(1) |