Table 2 Sequentially listed filtering steps for homozygous analysis
From: Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
ROH | |
|---|---|
Rare functional variants (RFV) | 5 |
Non-synonymous coding, indels | 4 |
RFVs in good sequence quality (Q > 100) | 4 |
RFVs not reported in dbSNP database | 2 |
Non-reported RFVs predicted to be disease causing | 1 |