Related Experiment Video
Updated: Apr 12, 2026

Hybrid De Novo Genome Assembly for the Generation of Complete Genomes of Urinary Bacteria using Short- and Long-read Sequencing Technologies
Published on: August 20, 2021
De novo assembly of a haplotype-resolved human genome
Hongzhi Cao1, Honglong Wu2, Ruibang Luo3
11] BGI-Shenzhen, Shenzhen, China. [2] BGI-Tianjin, Tianjin, China. [3] Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Abstract:
The human genome is diploid, and knowledge of the variants on each chromosome is important for the interpretation of genomic information. Here we report the assembly of a haplotype-resolved diploid genome without using a reference genome. Our pipeline relies on fosmid pooling together with whole-genome shotgun strategies, based solely on next-generation sequencing and hierarchical assembly methods. We applied our sequencing method to the genome of an Asian individual and generated a 5.15-Gb assembled genome with a haplotype N50 of 484 kb. Our analysis identified previously undetected indels and 7.49 Mb of novel coding sequences that could not be aligned to the human reference genome, which include at least six predicted genes. This haplotype-resolved genome represents the most complete de novo human genome assembly to date. Application of our approach to identify individual haplotype differences should aid in translating genotypes to phenotypes for the development of personalized medicine.
Related Concept Videos
Genome Annotation and Assembly
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Genomics
Homologous Recombination

