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Inheritable Disease

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Mygenostics Inheritable Disease
Product Overview
In order to help medical researchers to analyze inheritable disorders with complicated genetic heterogeneity in an efficient way. Mygenostics has produced a series of gene capture panels specifically for different types of genetic diseases. Any researchers with interest in genetic disorders could employ Mygenostics Inheritable Diseases panel to targeted sequence several disease causing genes at the same time quickly and precisely.

System Workflow

Technical characteristics

Sequencing strategy
100PE, 150PE sequencing 
Hiseq/Nextseq platform

Sequencing Depth

Data Analysis
SNP, Indel, HGMD annotation, Mutation effect prediction database annotation. 

Sample Requirements:
Input DNA:
For fresh sample: ≥ 1.0 μg (a minimum of 200 ng can be accepted with risk)
For FFPE sample: ≥ 1.5 μg
DNA concentration: ≥ 20 ng/μl
DNA Volume: ≥ 10 μl
OD260/280 = 1.8 - 2.0 without degradation or RNA contamination

Case review

Researchers applied Mygenostics ophthalmological panel to targeted sequence 144 known genes of inherited retinal diseases in order to prove NGS is a reliable strategy for routine gene diagnosis of Usher syndrome.

Eight affected patients and twelve unaffected from five unrelated Chinese USH families, including 2 pesudo-dominant ones provided samples for genetic assay. A total of 144 known genes of inherited retinal diseases derived from Mygenostics inheritable disease panel were assessed. Those data were analyzed using estabilished bioinformatics pipeline and segregation analysis.

Eleven mutations, eight of them were novel, in the USH2A gene were identified.
Mutation Spectrum in the USH2A gene