Table 1.
Tool | OS | Language | Central feature | NGS data | Input/ref | Output |
---|---|---|---|---|---|---|
Astrolabe | Linux | Java | Probabilistic | WGS | VCF | Diplotypes |
Mac | scoring system | PGRNseqa | BAM | Suballeles | ||
b37, b38 | Phenotype | |||||
All novel SNVs | ||||||
Aldy | Linux | Python | Combinatorial | WGS | BAM | Diplotypes |
Mac | framework | PGRNseq | b37 | Suballeles | ||
Putative novel | ||||||
core variants | ||||||
Stargazer | Linux | Python | Statistical | WGS | VCF | Diplotypes |
Mac | phasing | PGRNseq | GDF | Phenotype | ||
b37 | All novel SNVs |
aNot yet optimised for Astrolabe’s CNV calling.