Project: PRJEB36100
United Kingdom, Cambridge
数据描述
Sequence and assemble human haplotypes with long reads and orthogonal technologies to asses structural variation in human populations.
www.ebi.ac.uk
IP: 193.62.193.80
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相关论文
4A global view of human centromere variation and evolution
Shenghan Gao•Keisuke K. Oshima•Shu-Cheng Chuang•Mark Loftus•Tamara A. Potapova等 14 人
Nature
2026
•2026/7/29
•00 p.1-12
Centromeres are essential chromosomal regions that ensure accurate chromosome segregation during cell division, yet their highly repetitive sequence has historically hindered their complete assembly and characterization1. Consequently, the full spectrum of centromere diversity across individuals, po...
CentromeresEvolutionary geneticsGenomicsPopulation geneticsStructural variation
10.1038/S41586-026-10841-9
ISSN:0028-0836
Increased mutation and gene conversion within human segmental duplications
Mitchell R. Vollger•Philip C. Dishuck•William T. Harvey•William S. DeWitt•Xavi Guitart等 18 人
Nature
2023
•2023/5/10
•Vol.617 No.7960 p.325-334
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been systematically assessed because of the limitations of mapping short-read sequencing data1,2. Here we constructed 1:1 unambiguous alignments spanning high-identity SDs across 102 human haplotypes and compared the pattern ...
Evolutionary geneticsGenetic variationGenome evolutionMutationStructural variation
10.1038/S41586-023-05895-Y
ISSN:0028-0836
Complex genetic variation in nearly complete human genomes
Glennis A. Logsdon•Peter Ebert•Peter A. Audano•Mark Loftus•David Porubsky等 68 人
Nature
2025
•2025/7/23
•00 p.1-12
Diverse sets of complete human genomes are required to construct a pangenome reference and to understand the extent of complex structural variation. Here we sequence 65 diverse human genomes and build 130 haplotype-resolved assemblies (median continuity of 130 Mb), closing 92% of all previous assemb...
Genome informaticsGenomicsImmunogeneticsStructural variation
10.1038/S41586-025-09140-6
ISSN:0028-0836
The variation and evolution of complete human centromeres
Glennis A. Logsdon•Allison N. Rozanski•Fedor Ryabov•Tamara Potapova•Valery A. Shepelev等 20 人
Nature
2024
•2024/4/3
•00 p.1-10
Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size1. As a result, patterns of human centromeric variation and models for their evolution and function remain incomplete, despite centromeres being among the most rapidl...
CentromeresComparative genomicsEvolutionary geneticsGenome evolutionMolecular evolution
10.1038/S41586-024-07278-3
ISSN:0028-0836