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A Deep Learning-Powered Genotyping System for C9orf72 Hexanucleotide Repeat Expansions Enables High-Throughput Genetic Analysis
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"A Deep Learning-Powered Genotyping System for C9orf72 Hexanucleotide Repeat Expansions Enables High-Throughput Genetic Analysis"

Hexanucleotide expansions in the open reading frame 72 of human chromosome 9 (C9orf72) are a principal genetic driver of ALS-frontotemporal spectrum disorder. Genotyping of C9orf72 by PCR/capillary electrophoresis currently requires a significant amount of manual analysis time and may still yield inconsistencies between trained technicians.

This poster from Asuragen presents data validating a fully automated deep learning approach to quantifying C9orf72 hexanucleotide repeats to understand genotype/phenotype relationships in gene-associated disorders, such as ALS and FTD, that achieves human-level performance while significantly reducing the time required for manual interpretation.


Offered Free by: Asuragen
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