Short tandem repeats (STRs) are stretches of repetitive DNA in which short sequences, typically made of 2-6 nucleotides, are repeated several times. STRs are highly relevant in molecular-genetic applications – several STRs are linked to various genetic disorders. Dante is an alignment-free algorithm for genotyping and characterizing STR alleles based on sequence reads originating from STR…
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GenomeScreen was developed by Geneton as an affordable detection test for copy number variants (CNV). It is usually prescribed when there is some suspicion for pathogenic CNV either from screening or abnormal phenotype, but it can also be taken upon request. GenomeScreen is a great replacement for more conventional cytogenetic analysis through microarray-based methods (aCGH),…
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