Long-read sequencing technologies were crucial for completing the first draft human genome by improving sensitivity and structural variant detection. Coupling LRS with data from Hi-C and other methods facilitated the assembly of both haplotypes. Despite progress, gaps remain, especially in complex genetic regions, where previous assemblies were incomplete. Combining PacBio and Oxford Nanopore reads, advanced computational tools were utilized to overcome these limitations. The aim is to produce nearly gapless haplotype assemblies from a diverse set of individuals, focusing on essential genomic regions, including centromeres and segmental duplications.
Long-read sequencing (LRS) technologies have been pivotal in the human genome's completion, enhancing sensitivity for detecting structural variants and assembling haplotypes effectively.
Gaps remain in the genome, particularly at complex loci, indicating that most centromeres and some large, identical segmental duplications were not fully assembled in previous efforts.
The integration of PacBio high-fidelity reads and ultra-long Oxford Nanopore Technologies reads provided complementary strengths, enabling the assembly of a nearly complete human genome reference.
New resources targeting a diverse group of 65 individuals aim to create genetically diverse, nearly gapless chromosomes, addressing previous genome assembly gaps, particularly in key regions.
Collection
[
|
...
]