Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented. Here we present data from the first phase of
Human genomics is witnessing an ongoing paradigm shift from a single reference sequence to a pangenome form, but populations of Asian ancestry are underrepresented. Here we present data from the first phase of the Chinese Pangenome Consortium, including a collection of 116 high-quality and ...
人类基因组学正在见证从单一参考序列到泛基因组形式的持续范式转变,但亚洲血统的人群代表性不足。2023年6月14日,复旦大学徐书华、陆艳、中国医学科学院褚嘉祐及西安交通大学叶凯共同通讯在Nature在线发表题为“A pangenome reference of 36 Chinese populations”的研究论文,该研究报道了来自中国人泛基因组联盟(CPC)第...
A pangenome reference of 36 Chinese populations Article The Human Pangenome Project: a global resource to map genomic diversity Article20 April 2022 Main The human reference genome has formed the backbone of human genomics since its initial draft release more than 20 years ago2. The primary se...
A pangenome reference of 36 Chinese populations ArticleOpen access14 June 2023 Genetic variation and thede novoassembly of human genomes Article07 October 2015 Towards a reference genome that captures global genetic diversity ArticleOpen access30 October 2020 ...
12 With this reference genome we identified conserved and accelerated regions in the barn swallow genome and generated a catalog of genetic markers using all publicly available data to accurately estimate linkage disequilibrium (LD). Genome-wide analyses led to a list of candidate genes potentially ...
The reliance on a solitary linear reference genome has imposed a significant constraint on our comprehensive understanding of genetic variation in animals. This constraint is particularly pronounced for non-reference sequences (NRSs), which have not been extensively studied. Results In this study, we ...
While historically single reference genomes were all that was practical, advances in high-throughput sequencing tech- nologies and computational methods have made assem- bling whole genome sequences of numerous cultivars from a single species more accessible. With the advent of third generation ...
We performed genome resequencing on 301 peach cultivars from various geographical regions, achieving an average sequencing depth of approximately 25.6 × (Additional file 1: Table S9). Using the HJLM genome assembly as the reference, we identified a total of 741,406 high-quality SNPs and sm...
A pangenome reference of 36 Chinese populations Article Open access 14 June 2023 Variant calling and benchmarking in an era of complete human genome sequences Article 14 April 2023 References International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. ...