Article

Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia

2021-05-29

Abstract excerpt

<h4>ABSTRACT</h4> Both common and rare genetic variants (minor allele frequency > 1% and < 0.1% respectively) have been implicated in the aetiology of schizophrenia. In this study, we integrate single-cell gene expression data with publicly available Genome-Wide Association Study (GWAS) and exome sequenced data in order to investigate in parallel, the enrichment of common and (ultra-)rare variants related to schiz...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 29e94357-1b3f-5ce9-9001-40c18bbc964f
DOI: 10.1101/2021.05.26.21257794

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophreniaDOI 10.1101/2021.05.26.21257794Read

Ultra-rare and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia.Semantic proximity Read

Genetic identification of brain cell types underlying schizophrenia.Semantic proximity Read

Mapping genomic loci implicates genes and synaptic biology in schizophrenia.Semantic proximity Read

Identification of specific genes involved in schizophrenia aetiology - what difference does it make?Semantic proximity Read

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.Semantic proximity Read

Rare schizophrenia risk variants are enriched in genes shared with neurodevelopmental disordersSemantic proximity Read

Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants.Semantic proximity Read

Single-cell multi-cohort dissection of the schizophrenia transcriptome.Semantic proximity Read

Single-cell multi-cohort dissection of the schizophrenia transcriptomeSemantic proximity Read

Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channelsSemantic proximity Read

Schizophrenia: a common disease caused by multiple rare alleles.Semantic proximity Read

Multiple genes <i>in cis</i> mediate the effects of a single chromatin accessibility variant on aberrant synaptic development and function in human neuronsSemantic proximity Read