Chromosomes from one parent only: this is uniparental disomy (UPD)! Normally, every human has 22 pairs of chromosomes (called homologous chromosomes or homologs or autosomes) plus one couple of sexual chromosomes (which are two X chromosomes in females and one chromosome X plus one chromosome Y in males). For normal development, we need that, for
Unlike most other analytics in medicine, where automation is king even in the interpretation of the results, genetic testing still remains complex under all aspects. In particular for what concerns the interpretation of the results, despite the solid efforts made in developing artificial intelligence, the human factor is still pivotal and a good final outcome
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