Table 1 Pipeline and filter parameters used for Mendeliome sequencing (filter metrics)
From: Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis
Filter parameter | Patient |
|---|---|
Reads variation allele frequency range | 75–100 % |
Maximal number of allowed variations per gene | 10 |
Maximal number seen in epilepsy in-house DM (n = 511) | 5 |
Maximal number seen in structural in-house DM (n = 611) | 10 |
Maximal population variation frequency | 0.1 % |
Minimal read coverage | 6 |
Minimal variation quality | 10 |
Maximal target distance | 100 |
Transcryptic biotypes | protein_coding |
Variation locations | COMPOSED (variation spans different parts of a gene), intron, CDS (coding sequence) |
Consequence types | Protein structure affected; cryptic 5′SS/3′SS activation; strong 5′SS/3′SS effects |