Article

Full-length isoform transcriptome of developing human brain provides new insights into autism

2020-06-27

Abstract excerpt

<h4>Summary</h4> Alternative splicing plays important role in brain development, however its global contribution to human neurodevelopmental diseases (NDD) has not been fully investigated. Here, we examined the relationships between full-length splicing isoforms expression in the brain and de novo loss-of-function mutations identified in the patients with NDDs. We analyzed the full-length isoform transcriptome o...

Topics

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

Identifiers and source

Literature Corpus work: 2c409325-2d9b-5d17-9f3f-6b1552b6b6a0
DOI: 10.1101/2020.06.27.175489

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Full-length isoform transcriptome of developing human brain provides new insights into autismDOI 10.1101/2020.06.27.175489Read

Full-length isoform transcriptome of the developing human brain provides further insights into autism.Semantic proximity Read

Long-read proteogenomic atlas of human neuronal differentiation reveals isoform diversity informing neurodevelopmental risk mechanismsSemantic proximity Read

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanismsSemantic proximity Read

A comprehensive atlas of fetal splicing patterns in the brain of adult myotonic dystrophy type 1 patientsSemantic proximity Read

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms.Semantic proximity Read

PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders.Semantic proximity Read

Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disordersSemantic proximity Read

Aberrant splicing prediction during human organ developmentSemantic proximity Read

Coding and noncoding de novo variation converge on developmental trajectories of cortical layer 5–6 neurons in autism spectrum disorderSemantic proximity Read

Poison exon splicing in the human brain: a new paradigm for understanding and targeting neurological disordersSemantic proximity Read

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variantsSemantic proximity Read

Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testingSemantic proximity Read