Team Proposes 'Multiple-Site Model' for Interpreting Variants Associated with Multiple Disorders | GenomeWeb

As new studies continue to elucidate the link between structural variants and disease, these variants are increasingly associated with multiple distinct diseases, complicating their diagnostic utility. For example, a recurrent deletion on chromosome 15q13.3 has been associated with intellectual disability, schizophrenia, autism, and idiopathic generalized epilepsy, while another deletion on chromosome 16p11.2 has been associated with intellectual disability, obesity, schizophrenia, and sporadic cases of autism.

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