A harmonized public resource of deeply sequenced diverse human genomes
Z Koenig, MT Yohannes, LL Nkambule… - Genome …, 2024 - genome.cshlp.org
Underrepresented populations are often excluded from genomic studies due in part to a lack
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …
of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …
The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity
M Cerezo, E Sollis, Y Ji, E Lewis, A Abid… - Nucleic Acids …, 2025 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research
community, providing access to the most comprehensive database of human GWAS results …
community, providing access to the most comprehensive database of human GWAS results …
GWAShug: a comprehensive platform for decoding the shared genetic basis between complex traits based on summary statistics
The shared genetic basis offers very valuable insights into the etiology, diagnosis and
therapy of complex traits. However, a comprehensive resource providing shared genetic …
therapy of complex traits. However, a comprehensive resource providing shared genetic …
Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation
Data within biobanks capture broad yet detailed indices of human variation, but biobank-
wide insights can be difficult to extract due to complexity and scale. Here, using large-scale …
wide insights can be difficult to extract due to complexity and scale. Here, using large-scale …
Disentangling mechanisms behind the pleiotropic effects of proximal 16p11. 2 BP4-5 CNVs
Summary Whereas 16p11. 2 BP4-5 copy-number variants (CNVs) represent one of the most
pleiotropic etiologies of genomic syndromes in both clinical and population cohorts, the …
pleiotropic etiologies of genomic syndromes in both clinical and population cohorts, the …
Integration of variant annotations using deep set networks boosts rare variant association testing
Rare genetic variants can have strong effects on phenotypes, yet accounting for rare
variants in genetic analyses is statistically challenging due to the limited number of allele …
variants in genetic analyses is statistically challenging due to the limited number of allele …
Genetic association data are broadly consistent with stabilizing selection sha** human common diseases and traits
Results from genome-wide association studies (GWAS) enable inferences about the
balance of evolutionary forces maintaining genetic variation underlying common diseases …
balance of evolutionary forces maintaining genetic variation underlying common diseases …
Genome-wide association study for circulating metabolites in 619,372 individuals
Examining the downstream molecular consequences of genetic variation significantly
enhances our understanding of the heritable determinants of complex traits and disease …
enhances our understanding of the heritable determinants of complex traits and disease …
An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns
Mechanisms of abdominal obesity GWAS variants have remained largely unknown. To
elucidate these mechanisms, we leveraged subcutaneous adipose tissue (SAT) single …
elucidate these mechanisms, we leveraged subcutaneous adipose tissue (SAT) single …
Observational and Genetic Analyses of Traumatic Experiences and Endometriosis
Importance Although psychological traumas have been associated with endometriosis,
limited information is available regarding the role of trauma type and genetic predisposition …
limited information is available regarding the role of trauma type and genetic predisposition …