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Abstract Structural variants (SVs) are a major type of genetic variation, yet their role in human traits remains largely uncharacterized, primarily due to challenges in genotyping them on a genome-wide scale in large cohorts. Here we identified 171,233 high-quality, genome-wide SVs from 482 haplotype-resolved genome assemblies derived from PacBio HiFi long-read sequencing of 241 individuals.
Abstract Pangenomes are revolutionizing our ability to resolve genomic regions with complex variations1. However, existing human pangenomes2,3, constrained by small sample sizes, provide limited utility for medical and population genetic applications. Here we generated 1,116 diploid genome assemblies (55 de novo and 1,061 pangenome-informed) with an average size of 2.98 Gb and a mean quality value of 46 as part of the 1000 Chinese Pangenome (1KCP) project.
Abstract Depicting spatial distributions of disease-relevant cells is crucial for understanding disease pathology1,2. Here we present genetically informed spatial mapping of cells for complex traits (gsMap), a method that integrates spatial transcriptomics data with summary statistics from genome-wide association studies to map cells to human complex traits, including diseases, in a spatially resolved manner.
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