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Multidisciplinary Sciences
Sergey Nurk et al.
Summary: The Telomere-to-Telomere (T2T) Consortium has presented a complete sequence of a human genome, T2T-CHM13, which covers the whole genome except for the Y chromosome. This new sequence includes gapless assemblies, error corrections in previous references, and nearly 200 million base pairs of additional sequence with gene predictions, including protein coding genes. The completion of important regions allows for further studies on genetic variations and functions.
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Multidisciplinary Sciences
Mitchell R. Vollger et al.
Summary: This study presents a comprehensive view of human segmental duplication (SD) organization using a complete human genome dataset. SDs are an important component of the genome, accounting for one-third of the total sequence, and they exhibit evolutionary differences and structural diversity between humans and other primates.
Article
Biochemical Research Methods
Haoyu Cheng et al.
Summary: hifiasm is a novel assembler that utilizes long high-fidelity sequence reads to accurately represent haplotype information, outperforming existing tools in haplotype-resolved assembly on various datasets, including a hexaploid genome dataset.
Article
Multidisciplinary Sciences
Peter Ebert et al.
Summary: Through the use of long-read and strand-specific sequencing technologies, this study has achieved the de novo assembly of high-quality haplotype-resolved human genomes without the need for parent-child trio data. The research identified various forms of genetic variation, including structural variants and SV hotspots, and revealed the mechanisms of SV formation while providing SV candidates for adaptive selection within the human population.
Article
Multidisciplinary Sciences
Glennis A. Logsdon et al.
Summary: The study completed the linear assembly of human chromosome 8 using long-read sequencing technologies, resolving five long-standing gaps, including regions important for disease risk. The research revealed that the centromeric alpha-satellite sequence is generally methylated, and conducted comparative analysis of centromeres in chimpanzee, orangutan and macaque. The study estimates that the mutation rate of centromeric satellite DNA is accelerated compared to unique portions of the genome.
Article
Multidisciplinary Sciences
Arang Rhie et al.
Summary: The Vertebrate Genome Project and the international Genome 10K consortium have collaborated to generate high-quality genome assemblies for 16 species representing six major vertebrate lineages, leading to new biological discoveries. Long-read sequencing technologies are essential for maximizing genome quality, and addressing complex repeats and haplotype heterozygosity are crucial for reducing assembly errors and improving completeness of reference genomes. The lessons learned from this project have paved the way for the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all known vertebrate species.
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Biochemical Research Methods
Alla Mikheenko et al.
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Multidisciplinary Sciences
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Review
Genetics & Heredity
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(2020)
Review
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Charles R. Harris et al.
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Multidisciplinary Sciences
Haley M. Amemiya et al.
SCIENTIFIC REPORTS
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Guillaume Marcais et al.
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