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Updated: May 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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在精神分裂症中罕见的破坏性突变的多基因负担

Shaun M Purcell1, Jennifer L Moran2, Menachem Fromer3

  • 11] Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA [2] Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [3] Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA [4] Analytic and Translational Genetics Unit, Psychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA [5] Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

Nature
|January 28, 2014
PubMed
概括

精神分裂症遗传学是复杂的,涉及许多基因的许多罕见突变. 外基组测序揭示了多基因负担,突出显示了电压通道和ARC信号复合体作为关键区域.

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