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New technologies to uncover the molecular basis of disorders of sex development

Aug 16, 2018

Abnormalities in sex developmental pathways may lead to disorders/differences of sex development (DSD). Many of the genes identified to be important in sex development were found to be mutated in patients diagnosed with DSD. The review focus on the genomic technologies used to achieve genetic diagnosis in DSD, how those technologies have helped to identify novel genes associated with DSD pathogenesis, as well as developing high-throughput technologies that could be incorporated into genetic diagnostic practice.

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BioNano Genomics

A revolutionary NanoChannel technology for Genome mapping of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias.

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Genome maps of extremely long DNA without amplification, providing long-range contiguity and eliminating PCR bias

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