Principles and methods for transferring polygenic risk scores across global populations
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …
or disease and may become a valuable tool for advancing precision medicine. However …
[HTML][HTML] Genomic data in the All of Us research program
All of Us Research Program Genomics Investigators - Nature, 2024 - ncbi.nlm.nih.gov
Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics 1–4. The All of Us Research Program is …
a long-standing goal for the field of human genetics 1–4. The All of Us Research Program is …
Germline Predisposition for Clonal Hematopoiesis
Clonal hematopoiesis (CH) is an entity hallmarked by skewed hematopoiesis with persistent
overrepresentation of cells from a common stem/progenitor lineage harboring single …
overrepresentation of cells from a common stem/progenitor lineage harboring single …
Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles
Translating genome-wide association study (GWAS) loci into causal variants and genes
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …
requires accurate cell-type-specific enhancer–gene maps from disease-relevant tissues …
[HTML][HTML] Inherited polygenic effects on common hematological traits influence clonal selection on JAK2V617F and the development of myeloproliferative neoplasms
Myeloproliferative neoplasms (MPNs) are chronic cancers characterized by overproduction
of mature blood cells. Their causative somatic mutations, for example, JAK2 V617F, are …
of mature blood cells. Their causative somatic mutations, for example, JAK2 V617F, are …
[HTML][HTML] SCGB1D2 inhibits growth of Borrelia burgdorferi and affects susceptibility to Lyme disease
S Strausz, E Abner, G Blacker, S Galloway… - Nature …, 2024 - nature.com
Lyme disease is a tick-borne disease caused by bacteria of the genus Borrelia. The host
factors that modulate susceptibility for Lyme disease have remained mostly unknown. Using …
factors that modulate susceptibility for Lyme disease have remained mostly unknown. Using …
Downregulation of the kidney glucagon receptor, essential for renal function and systemic homeostasis, contributes to chronic kidney disease
The glucagon receptor (GCGR) in the kidney is expressed in nephron tubules. In humans
and animal models with chronic kidney disease, renal GCGR expression is reduced …
and animal models with chronic kidney disease, renal GCGR expression is reduced …
[HTML][HTML] Genetic associations of protein-coding variants in venous thromboembolism
XY He, BS Wu, L Yang, Y Guo, YT Deng, ZY Li… - Nature …, 2024 - nature.com
Previous genetic studies of venous thromboembolism (VTE) have been largely limited to
common variants, leaving the genetic determinants relatively incomplete. We performed an …
common variants, leaving the genetic determinants relatively incomplete. We performed an …
Analysis of blood methylation quantitative trait loci in East Asians reveals ancestry-specific impacts on complex traits
Methylation quantitative trait loci (mQTLs) are essential for understanding the role of DNA
methylation changes in genetic predisposition, yet they have not been fully characterized in …
methylation changes in genetic predisposition, yet they have not been fully characterized in …
[HTML][HTML] Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases
M Homilius, W Zhu, SS Eddy, PC Thompson… - Nature Genetics, 2024 - nature.com
Although genome-wide association studies (GWAS) have successfully linked genetic risk
loci to various disorders, identifying underlying cellular biological mechanisms remains …
loci to various disorders, identifying underlying cellular biological mechanisms remains …