That long ROHs regions could be enriched for homozygous schizophrenic risk variants is also suggested by a recent paper by Johnson and colleagues, who failed to identify a reliable association between ROH burden and schizophrenia but found p-values that approached significant associations when large ROHs were considered separately [ 2 ].
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Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways.
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