Back to search

Article

Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetry

2024-02-26

Abstract excerpt

Down syndrome, the most common form of human intellectual disability, is caused by nondisjunction and chromosome 21 trisomy (T21). Small centromeres have been hypothesized to contribute to its aetiology and studies on mammals suggest that larger centromeres are more efficiently transmitted, yet complete sequencing of chromosome 21 (chr21) centromeres has been particularly challenging. Using long-read sequencing, w...

Topics

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

Identifiers and source

Literature Corpus work
aa9159ff-807b-543c-a1b1-0eaaabc83e71
DOI
10.1101/2024.02.25.581464
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Complete chromosome 21 centromere sequencing of families with Down syndrome reveals centromere size asymmetryDOI 10.1101/2024.02.25.581464
A global view of human centromere variation and evolutionSemantic proximity
The variation and evolution of complete human centromeres.Semantic proximity
Mutational spectrum of CENP-B box and α-satellite DNA on chromosome 21 in Down syndrome children.Semantic proximity
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological changesSemantic proximity
The DNA sequence of human chromosome 21.Semantic proximity
Multidimensional variation and population stratification across 8000 complete human centromeresSemantic proximity
Long-read Data Revealed Structural Diversity in Human Centromere SequencesSemantic proximity
The variation and evolution of complete human centromeresSemantic proximity
Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNASemantic proximity
Complete genomic and epigenetic maps of human centromeresSemantic proximity
Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitionsSemantic proximity
Chromosome 21: a small land of fascinating disorders with unknown pathophysiology.Semantic proximity
Select a neighboring publication to make it the new centre.