Article

Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing

2020-10-23

Abstract excerpt

Chronic obstructive pulmonary disease (COPD) is a leading cause of death worldwide. Genome-wide association studies (GWAS) have identified over 80 loci that are associated with COPD and emphysema, however for most of these loci the causal variant and gene are unknown. Here, we utilize lung splice quantitative trait loci (sQTL) data from the Genotype-Tissue Expression project (GTEx) and short read sequencing data f...

Topics

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

Identifiers and source

Literature Corpus work: 34b5e77f-c7af-50ea-9fa1-2551e52ffff3
DOI: 10.1101/2020.10.20.20203927

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read SequencingDOI 10.1101/2020.10.20.20203927Read

Characterisation of a COPD-associated nephronectin (NPNT) functional splicing genetic variant in human lung tissue via long-read sequencing.Semantic proximity Read

A cystic fibrosis lung disease modifier locus harbors tandem repeats associated with gene expressionSemantic proximity Read

Genome-wide analysis of tandem repeat variation identifies SLC15A4 as a susceptibility gene for idiopathic pulmonary fibrosisSemantic proximity Read

Overlap between COPD genetic association results and transcriptional quantitative trait loci.Semantic proximity Read

Overlap between COPD genetic association results and transcriptional quantitative trait lociSemantic proximity Read

Alternative splicing in the lung influences COVID-19 severity and respiratory diseasesSemantic proximity Read

Alternative splicing in lung influences COVID-19 severity and respiratory diseases.Semantic proximity Read

A Large-Scale Exome-Wide Association Study Identifies Novel Germline Mutations in Lung Cancer.Semantic proximity Read

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.Semantic proximity Read

Exome Array Analysis Identifies a Common Variant in IL27 Associated with Chronic Obstructive Pulmonary Disease.Semantic proximity Read

Extreme Trait Whole-Genome Sequencing Identifies PTPRO as a Novel Candidate Gene in Emphysema with Severe Airflow Obstruction.Semantic proximity Read

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.Semantic proximity Read

Characterization of a COPD-Associated <i>NPNT</i> Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing

Abstract excerpt

Topics

Identifiers and source

Related research