Genome Arbiter
The Ultimate Genetic Verdict
— AI-powered rare disease diagnosis
Upload Genetic Variants
Variant File (CSV/TSV/XLSX)
Upload a file with columns:
chromosome
,
position
,
reference
,
alternate
,
genome_assembly
(required),
gene
(optional),
variant_type
(optional),
hgvsc
(optional, cDNA HGVS),
hgvsp
(optional, protein HGVS),
zygosity
(required: heterozygous/homozygous)
Examples
MFN2 example
SPTAN1 example
SPAST example
Disease Description
Mode of Inheritance
Dominant
Recessive
Analyze Variants
Analyzing Variants...
Analyzing Variants...
Analysis Results
Total Variants Analyzed
0
Processing Time
0s
Variants Not Processed
