Rare Disease

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Genome Insight Inc.
Genome Insight Inc.
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Rare Disease

GENOME INSIGHT
Opening the doors to rare disease diagnosis.

Rare Disease 목록

Bioinformatics-powered whole genome sequence information
provides the most complete medical insights
into a person’s disease.

Rare disease patients face many challenges including misdiagnosis, and delayed diagnosis
but lack of access to comprehensive genomic information should not be one of them.

A fast, acute, and comprehensive automated WGS pipeline coupled
with a bioinformatics-powered digital solution

Variant calling
(germline comparison to reference genomes)

Single nucleotide
variation/INDEL

Structural
variations

Copy number
variation

Transposable
element

Annotation of found mutations
Aligned with ACMG/ClinGen recommendations

Filtering
of significant variants from millions of germline variants based
on population data and mapping quality

Interpretation
Pathogenic Assessment

Family history
number of included affected or healthy family members, mode of inheritance etc.

Individual clinical characteristics

Pediatric and Genomic specialist's curation

RareVisionTM

A user-friendly report of medically meaningful insights

Genome Insight Inc.
Address : 6330 Nancy Ridge Drive, Suite 106, San Diego, CA 92121
Tel : 858-665-2120
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