A review of UMAP in population genetics
Uniform manifold approximation and projection (UMAP) has been rapidly adopted by the
population genetics community to study population structure. It has become common in …
population genetics community to study population structure. It has become common in …
Towards accurate and reliable resolution of structural variants for clinical diagnosis
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
The complete and fully-phased diploid genome of a male Han Chinese
Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
A sheep pangenome reveals the spectrum of structural variations and their effects on tail phenotypes
R Li, M Gong, X Zhang, F Wang, Z Liu… - Genome …, 2023 - genome.cshlp.org
Structural variations (SVs) are a major contributor to genetic diversity and phenotypic
variations, but their prevalence and functions in domestic animals are largely unexplored …
variations, but their prevalence and functions in domestic animals are largely unexplored …
Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility
The COVID-19 pandemic has accounted for millions of infections and hundreds of thousand
deaths worldwide in a short-time period. The patients demonstrate a great diversity in …
deaths worldwide in a short-time period. The patients demonstrate a great diversity in …
Structural variation and introgression from wild populations in East Asian cattle genomes confer adaptation to local environment
X **a, F Zhang, S Li, X Luo, L Peng, Z Dong, H Pausch… - Genome Biology, 2023 - Springer
Abstract Background Structural variations (SVs) in individual genomes are major
determinants of complex traits, including adaptability to environmental variables. The …
determinants of complex traits, including adaptability to environmental variables. The …
Development of a roadmap for action on new approach methodologies in risk assessment
SE Escher, F Partosch, S Konzok… - EFSA Supporting …, 2022 - Wiley Online Library
While whole animal studies have their place in risk assessment of food and feed
components, it is thought that more modern approaches such as human focused new …
components, it is thought that more modern approaches such as human focused new …
Genome structural variation in human evolution
Structural variation (SV) is a large difference (typically> 100 bp) in the genomic structure of
two genomes and includes both copy number variation and variation that does not change …
two genomes and includes both copy number variation and variation that does not change …
A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other Bos species
Chinese indicine cattle harbor a much higher genetic diversity compared with other
domestic cattle, but their genome architecture remains uninvestigated. Using PacBio HiFi …
domestic cattle, but their genome architecture remains uninvestigated. Using PacBio HiFi …