Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Nature medicine, 2021 - nature.com
Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human
genome to estimate the risk of a disease or disease-related trait for an individual. The …
genome to estimate the risk of a disease or disease-related trait for an individual. The …
Challenges and opportunities for develo** more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
DOCK2 is involved in the host genetics and biology of severe COVID-19
Identifying the host genetic factors underlying severe COVID-19 is an emerging challenge,,,–
. Here we conducted a genome-wide association study (GWAS) involving 2,393 cases of …
. Here we conducted a genome-wide association study (GWAS) involving 2,393 cases of …
Prediction and design of nanozymes using explainable machine learning
An abundant number of nanomaterials have been discovered to possess enzyme‐like
catalytic activity, termed nanozymes. It is identified that a variety of internal and external …
catalytic activity, termed nanozymes. It is identified that a variety of internal and external …
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 …
Genome-wide risk prediction of common diseases across ancestries in one million people
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast …
Dimensionality reduction by UMAP reinforces sample heterogeneity analysis in bulk transcriptomic data
Transcriptomic analysis plays a key role in biomedical research. Linear dimensionality
reduction methods, especially principal-component analysis (PCA), are widely used in …
reduction methods, especially principal-component analysis (PCA), are widely used in …
[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …
disorder, or disease results from the combined contribution of variants from multiple genes …
GenoTools: An open-source Python package for efficient genotype data quality control and analysis
GenoTools, a Python package, streamlines population genetics research by integrating
ancestry estimation, quality control, and genome-wide association studies capabilities into …
ancestry estimation, quality control, and genome-wide association studies capabilities into …
Application of Uniform Manifold Approximation and Projection (UMAP) in spectral imaging of artworks
This study assesses the potential of Uniform Manifold Approximation and Projection (UMAP)
as an alternative tool to t-distributed Stochastic Neighbor Embedding (t-SNE) for the …
as an alternative tool to t-distributed Stochastic Neighbor Embedding (t-SNE) for the …