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publicationDate 2019-04-18-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber US-2019112640-A1
titleOfInvention Method for mapping spinal muscular atrophy (“sma”) locus and other complex genomic regions using molecular combing
abstract A molecular-combing, Genetic-Morse Code based method enabling the detection and high-resolution characterization of complex regions of genomic DNA, such as the SMA locus, with molecular combing. A method for the identification of biomarkers associated to the cis-duplication of SMN1 gene or segments of other complex parts of the genome. Biomarkers identified by this method which are composed of a sets of different colored probes, such as those disclosed for the SMA region.
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