A review of UMAP in population genetics

A Diaz-Papkovich, L Anderson-Trocmé… - Journal of Human …, 2021 - nature.com
Uniform manifold approximation and projection (UMAP) has been rapidly adopted by the
population genetics community to study population structure. It has become common in …

Towards accurate and reliable resolution of structural variants for clinical diagnosis

Z Liu, R Roberts, TR Mercer, J Xu, FJ Sedlazeck… - Genome biology, 2022 - Springer
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 …

[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome

RL Collins, JT Glessner, E Porcu, M Lepamets… - Cell, 2022 - cell.com
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 …

The complete and fully-phased diploid genome of a male Han Chinese

C Yang, Y Zhou, Y Song, D Wu, Y Zeng, L Nie, P Liu… - Cell Research, 2023 - nature.com
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 …

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 …

Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility

F Wang, S Huang, R Gao, Y Zhou, C Lai, Z Li, W **an… - Cell discovery, 2020 - nature.com
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 …

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 …

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 …

Genome structural variation in human evolution

EJ Hollox, LW Zuccherato, S Tucci - Trends in Genetics, 2022 - cell.com
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 …

A Chinese indicine pangenome reveals a wealth of novel structural variants introgressed from other Bos species

X Dai, P Bian, D Hu, F Luo, Y Huang, S Jiao… - Genome …, 2023 - genome.cshlp.org
Chinese indicine cattle harbor a much higher genetic diversity compared with other
domestic cattle, but their genome architecture remains uninvestigated. Using PacBio HiFi …