"Recent advancements in long-read sequencing technology and assembly algorithms have enabled the generation of high-quality diploid genome assemblies, which provide a more comprehensive view of complex variants and enhance our understanding of their formation mechanisms and functional consequences."
"A pangenome refers to the collection of genome sequences in a population and is typically constructed from the diploid assemblies of multiple individuals. Recent efforts by the Human Pangenome Reference Consortium and the Chinese Pangenome Consortium have demonstrated the potential of pangenomes in resolving structurally divergent regions of the human genome."
"First, rare variants, which are more likely to be pathogenic than common variants and have pivotal roles in inherited diseases, are underrepresented in small-scale pangenomes. Second, the limited sample sizes hamper accurate estimations of allele frequencies, which is crucial for conducting association analyses."
The reduction in short-read sequencing costs has facilitated the sequencing of millions of human genomes, revealing significant genetic variation. While effective for small variants, short-read sequencing struggles with larger variants. Long-read sequencing technology has improved the generation of high-quality diploid genome assemblies, offering insights into complex variants. Pangenomes, representing genome sequences from multiple individuals, are being developed to integrate genetic variants. However, current pangenomes face challenges due to small sample sizes, leading to underrepresentation of rare variants and inaccurate allele frequency estimations.
Read at Nature
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