Article

Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene <i>CACNA1C</i> in human brain

2018-02-05

Abstract excerpt

RNA splicing is a key mechanism linking genetic variation with psychiatric disorders. Splicing profiles are particularly diverse in brain and difficult to accurately identify and quantify. We developed a new approach to address this challenge, combining long-range PCR and nanopore sequencing with a novel bioinformatics pipeline. We identify the full-length coding transcripts of CACNA1C in human brain. CACNA1C is...

Topics

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

Identifiers and source

Literature Corpus work: 19f29540-d8cf-517e-8a5b-9e2bac94e9c9
DOI: 10.1101/260562

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Long-read sequencing reveals the complex splicing profile of the psychiatric risk gene <i>CACNA1C</i> in human brainDOI 10.1101/260562Read

Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencingSemantic proximity Read

Long-read sequencing reveals the RNA isoform repertoire of neuropsychiatric risk genes in human brainSemantic proximity Read

Functional implications of a psychiatric risk variant within CACNA1C in induced human neuronsSemantic proximity Read

CACNA1C (CaV1.2) and other L-type calcium channels in the pathophysiology and treatment of psychiatric disorders: Advances from functional genomics and pharmacoepidemiologySemantic proximity Read

Using deep long-read RNAseq in Alzheimer’s disease brain to assess medical relevance of RNA isoform diversitySemantic proximity Read

Structural characterization of a polymorphic repeat at the CACNA1C schizophrenia locusSemantic proximity Read

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium ChannelsSemantic proximity Read

Single-nucleus RNA sequencing and machine learning identify CACNA1A as a myocyte-specific biomarker for sudden unexplained death in schizophreniaSemantic proximity Read

Incomplete annotation of disease-associated genes is limiting our understanding of Mendelian and complex neurogenetic disordersSemantic proximity Read

Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.Semantic proximity Read

Profiling the array of Ca(v)3.1 variants from the human T-type calcium channel gene CACNA1G: alternative structures, developmental expression, and biophysical variations.Semantic proximity Read

Pleiotropic Association of CACNA1C Variants With Neuropsychiatric Disorders.Semantic proximity Read