Back to search

Article

Automated assembly of high-quality diploid human reference genomes

2022-03-06

Abstract excerpt

The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has greatly benefited society 1, 2 . However, it still has many gaps and errors, and does not represent a biological human genome since it is a blend of multiple individuals 3, 4 . Recently, a high-quality telomere-to-telomere reference genome, CHM13, was generated with the latest long-read t...

Topics

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

Identifiers and source

Literature Corpus work
e0090b95-849e-5124-b397-0ec0d2f2c267
DOI
10.1101/2022.03.06.483034
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.
Automated assembly of high-quality diploid human reference genomesDOI 10.1101/2022.03.06.483034
Semi-automated assembly of high-quality diploid human reference genomes.Semantic proximity
A draft human pangenome reference.Semantic proximity
A Draft Human Pangenome ReferenceSemantic proximity
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References.Semantic proximity
HPRC2: A human pangenome reference with near-complete coverage of common genetic variationSemantic proximity
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assemblySemantic proximity
T2T-YAO: a Telomere-to-telomere Assembled Diploid Reference Genome for Han ChineseSemantic proximity
The Revised Diploid Genome Sequence of an Individual Human: An Optimized Assembly Workflow for Scaling of near Telomere-to-Telomere AssembliesSemantic proximity
The diploid genome sequence of an individual human.Semantic proximity
A complete diploid human genome benchmark for personalized genomicsSemantic proximity
The complete sequence of a human genomeSemantic proximity
The Human Pangenome’s sequence conservation reveals a landscape of polymorphic structural variationsSemantic proximity
Select a neighboring publication to make it the new centre.