Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity

We report here the results from the CNV analysis of whole-genome sequences from 91 multiplex schizophrenia families. Employing four algorithms (CNVnator, Cn.mops, DELLY and LUMPY) to identify CNVs, we find 1231 rare deletions and 287 rare duplications in 300 individuals (77 with schizophrenia (SZ), 32 with schizoaffective disorder (SAD), 82 with another neuropsychiatric diagnosis and 109 unaffected).

Source: Schizophrenia Research - February 24, 2018 Category: Psychiatry Authors: Fayeza F. Khan, Phillip E. Melton, Nina S. McCarthy, Bharti Morar, John Blangero, Eric K. Moses, Assen Jablensky Source Type: research