Article

A unifying model that explains the origins of human inverted copy number variants

2023-09-22

Abstract excerpt

With the release of the telomere-to-telomere human genome sequence and the availability of both long-read sequencing and optical genome mapping techniques, the identification of copy number variants and other structural variants is providing new insights into human genetic disease. Different mechanisms have been proposed to account for the novel junctions in these complex architectures, including aberrant forms of...

Topics

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

Identifiers and source

Literature Corpus work: 59f82560-f383-5845-8302-ffe96d7c3f1f
DOI: 10.1101/2023.09.19.558550

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A unifying model that explains the origins of human inverted copy number variantsDOI 10.1101/2023.09.19.558550Read

Inverted low-copy repeats and genome instability--a genome-wide analysis.Semantic proximity Read

Large Inverted Duplications in the Human Genome Form via a Fold-Back MechanismSemantic proximity Read

Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresSemantic proximity Read

Inversion polymorphism in a complete human genome assemblySemantic proximity Read

Genome-wide maps of highly-similar intrachromosomal repeats that mediate ectopic recombination in three human genome assembliesSemantic proximity Read

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Semantic proximity Read

DNA replication errors drive genome-wide small inverted triplication dynamicsSemantic proximity Read

Human intrachromosomal telomeric-like repeats: sequence organization and mechanisms of originSemantic proximity Read

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

Mechanisms for recurrent and complex human genomic rearrangements.Semantic proximity Read

Interruptions impact clinical features of repeat expansion diseases, but how are they gained and lost?Semantic proximity Read

Segmental duplications and their variation in a complete human genomeSemantic proximity Read