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https://github.com/ibchgenomic/evai-analyzer

eVaianalyzer for human genomics
https://github.com/ibchgenomic/evai-analyzer

cancer-diagnosis cancer-genomics cancer-research patient-management variant-analysis

Last synced: 7 months ago
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eVaianalyzer for human genomics

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README

          

# eVai-analyzer
- eVai-analyzer for open genomics.
- It analyzes the eVai output files for variant annotation to filtering, preparating user reports and database and restapi human genomics.
- **new version coming with lots of new features**

```
cargo build
```

```
variantannotator

Usage: eVaianalyzer

Commands:
variant-analyzer analyzer for the variants
variant-filter filter the variants
variant-database create variant database
gtf-analyze analyze the corresponding gtf
variant-seq prepare the variant seq annotation
download-genome download the human genome
acmg-transcript variant-transcriptids
sequence-profile sequence profiling
help Print this message or the help of the given subcommand(s)

Options:
-h, --help Print help
-V, --version Print version

ibch/eVai-analyzer » ./target/debug/eVaianalyzer variant-analyzer ./data-repo/sample1.tsv ./data-repo/sampletest.tsv
ibch/eVai-analyzer » ./target/debug/eVaianalyzer variant-filter ./data-repo/sample1.tsv ./data-repo/sampletest.tsv TTT
ibch/eVai-analyzer » ./target/debug/eVaianalyzer analyzer ./data-repo/sample1.tsv ./data-repo/sampletest.tsv
ibch/eVai-analyzer » ./target/debug/eVaianalyzer filter ./data-repo/sample1.tsv ./data-repo/sampletest.tsv TTT
ibch/eVai-analyzer » ./target/debug/eVaianalyzer acmg-transcript ./data-repo/sample1.tsv
ibch/eVai-analyzer » ./target/debug/eVaianalyzer gtf-analyze ./data-repo/samplegtf.gtf
ibch/eVai-analyzer » ./target/debug/eVaianalyzer download-genome yes
ibch/eVai-analyzer » ./target/debug/eVaianalyzer sequence-profile ./data-repo/sample1.tsv ./data-repo/sample.fasta 10 10
ibch/eVai-analyzer » ./target/debug/eVaianalyzer variant-seq ./data-repo/sample1.tsv ./data-repo/sample.fasta
```

Gaurav Sablok \
Instytut Chemii Bioorganicznej \
Polskiej Akademii Nauk \
ul. Noskowskiego 12/14 | 61-704, Poznań \
Poland