Table 1 Level of evidence for gene mutations
From: A systematic review of genetic mutations in pulmonary arterial hypertension
Level | Criteria |
|---|---|
Annotation error | When the record is related to a different disease or biological topic (mainly due to imprecisions in the gene and disease systematic annotations) |
Unrelated | When the record is properly annotated but the mention of disease or the gene is casual or not the main topic |
Negative evidence | When studies test gene polymorphisms and dismiss a relationship with PAH |
Biologically related but no evidence of mutation | When the studies performed experiments in non-human specimens or cell cultures showing a biological relationship with PAH, treatment or development of the disease but not evidence of mutations in patients is mentioned |
Experimental evidence of mutations | When experimental evidence of mutation is shown in a group of patients |
Other evidences of genetic alterations | When not specific gene mutations are provided such as haplotypes or GWAS (genome wide association studies) |
Genetic alteration in a related disease | When experimental evidence of mutations is provided not specifically for PAH or PAH is not the main topic |