Back to search

Article

Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet

2022-10-05

Abstract excerpt

<title>Abstract</title> <p>As the state-of-the-art sequencing technologies and computational methods enable investigation of challenging regions in the human genome, an update variant benchmark is demanded. Herein, we sequenced a Chinese Quartet, consisting of two monozygotic twin daughters and their biological parents, with multiple advanced sequencing platforms, including Illumina, BGI, PacBio, and Oxford Nanop...

Topics

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

Identifiers and source

Literature Corpus work
3fc3a045-9a4f-5521-b974-a88cdc2e49a0
DOI
10.21203/rs.3.rs-2106421/v1
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.
Haplotype-resolved assemblies and variant benchmark of a Chinese QuartetDOI 10.21203/rs.3.rs-2106421/v1
Haplotype-resolved assemblies and variant benchmark of a Chinese QuartetSemantic proximity
A Pangenome Reference of 36 Chinese populationsSemantic proximity
Quartet DNA reference materials and datasets for comprehensively evaluating germline variants calling performanceSemantic proximity
A diploid assembly-based benchmark for variants in the major histocompatibility complex.Semantic proximity
Complete Telomere-to-Telomere Assembly of the Y Chromosome in the Chinese QuartetSemantic proximity
A Diploid Assembly-based Benchmark for Variants in the Major Histocompatibility ComplexSemantic proximity
An integrated Asian human SNV and indel benchmark established using multiple sequencing methods.Semantic proximity
De novo assembly of a haplotype-resolved human genome.Semantic proximity
The 1000 Chinese Pangenome empowers medical and population genetics.Semantic proximity
An integrated Asian human SNV and indel benchmark combining multiple sequencing methodsSemantic proximity
Accurate chromosome-scale haplotype-resolved assembly of human genomesSemantic proximity
Chromosome-scale, haplotype-resolved assembly of human genomes.Semantic proximity
Select a neighboring publication to make it the new centre.