Sequencing platform for inherited retinal diseases
Identify, measure or monitor biological signals linked to response or progression.
Offer overview
What this offer helps you achieve
Identify, measure or monitor biological signals linked to response or progression.
Scientific and technical scope
SEQUENCING PLATFORM works on genes associated with various genetic diseases, mainly those affecting the retina. Exons and flanking intronic regions are amplified by PCR, enzymatically purified, and then sequenced. Results are interpreted using SeqScape software. The platform validates variants identified by targeted high-throughput sequencing or whole exome sequencing and performs family co-segregation analyses or control subject analyses for selected variants. It also offers plasmid sequencing.
Capabilities mobilised
Therapeutic areasTherapeutic target discoveryBiomarkersPlatforms
Application fields
Genetic and rare diseasesOphthalmology
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