Article

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations

2023-12-13

Abstract excerpt

Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis, and pulmonary artery stenosis), by applying a combined gen...

Topics

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

Identifiers and source

Literature Corpus work: 60ac3584-0a50-5c46-932c-51821f1c246b
DOI: 10.21203/rs.3.rs-3740005/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generationsDOI 10.21203/rs.3.rs-3740005/v1Read

An open resource of structural variation for medical and population geneticsSemantic proximity Read

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p SyndromesSemantic proximity Read

Complex de novo structural variants are an underestimated cause of rare disorders.Semantic proximity Read

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype-Phenotype Correlation and Development of a CGR Detection Pipeline.Semantic proximity Read

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.Semantic proximity Read

A pipeline for complete characterization of complex germline rearrangements from long DNA reads.Semantic proximity Read

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationSemantic proximity Read

Complex de novo structural variants are an underestimated cause of rare disordersSemantic proximity Read

Human Structural Variation: Mechanisms of Chromosome Rearrangements.Semantic proximity Read

Deciphering the role of germline complex de novo structural variations in rare disordersSemantic proximity Read

Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworksSemantic proximity Read

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patientsSemantic proximity Read