There are thousands of rare human disorders that are caused by single deleterious, protein- coding genetic variants. However, patients with the same genetic defect can have different …
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877 individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
By meta-analyzing the whole-exomes of 24,248 cases and 97,322 controls, we implicate ultra-rare coding variants (URVs) in ten genes as conferring substantial risk for …
M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams… - Nature, 2014 - nature.com
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de novo) mutations, in the form of large chromosomal copy number changes, occur in a small …
Genome-wide association studies (GWAS) have identified> 250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters …
SE Legge, ML Santoro, S Periyasamy… - Psychological …, 2021 - cambridge.org
Schizophrenia is a severe psychiatric disorder with high heritability. Consortia efforts and technological advancements have led to a substantial increase in knowledge of the genetic …
Traumatic brain injury (TBI) is a leading cause of death and disability worldwide and is a risk factor for dementia later in life. Research into the pathophysiology of TBI has focused on the …
Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern of inheritance,. When MI occurs early in life, genetic inheritance is a major …