Article

Segmental duplications and their variation in a complete human genome

2021-05-26

Abstract excerpt

<h4>ABSTRACT</h4> Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13), we present the first comprehensive view of human SD organization. SDs account for nearly one-third of the additional sequence increasing the genom...

Topics

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

Identifiers and source

Literature Corpus work: b5412c08-0781-5ce4-b197-8fa45c68417b
DOI: 10.1101/2021.05.26.445678

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Segmental duplications and their variation in a complete human genomeDOI 10.1101/2021.05.26.445678Read

Segmental duplications and their variation in a complete human genome.Semantic proximity Read

Structural polymorphism and diversity of human segmental duplicationsSemantic proximity Read

Pangenome discovery and characterization of human protein-coding duplicated genesSemantic proximity Read

Complex genetic variation in nearly complete human genomesSemantic proximity Read

Widespread Regulatory Turnover Across Human Segmental DuplicationsSemantic proximity Read

A refined characterization of large-scale genomic differences in the first complete human genomeSemantic proximity Read

Increased mutation rate and interlocus gene conversion within human segmental duplicationsSemantic proximity Read

Joint Segmental Duplication Co-option Drives Human-specific Transcriptional Readthrough and Expression Fine-tuning of <i>NPEPPS</i> - <i>TBC1D3</i>Semantic proximity Read

Hidden genetic diversity in 320 nearly-complete East Asian genome assembliesSemantic proximity Read

The complete sequence of a human genomeSemantic proximity Read

Diversity of human copy number variation and multicopy genes.Semantic proximity Read

Complex genetic variation in nearly complete human genomes.Semantic proximity Read