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 …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
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 …

DOCK2 is involved in the host genetics and biology of severe COVID-19

H Namkoong, R Edahiro, T Takano, H Nishihara… - Nature, 2022 - nature.com
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 …

Prediction and design of nanozymes using explainable machine learning

Y Wei, J Wu, Y Wu, H Liu, F Meng, Q Liu… - Advanced …, 2022 - Wiley Online Library
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 …

[PDF][PDF] Genome-wide risk prediction of common diseases across ancestries in one million people

N Mars, S Kerminen, YCA Feng, M Kanai, K Läll… - Cell Genomics, 2022 - cell.com
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 …

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 …

[PDF][PDF] Dimensionality reduction by UMAP reinforces sample heterogeneity analysis in bulk transcriptomic data

Y Yang, H Sun, Y Zhang, T Zhang, J Gong, Y Wei… - Cell reports, 2021 - cell.com
Transcriptomic analysis plays a key role in biomedical research. Linear dimensionality
reduction methods, especially principal-component analysis (PCA), are widely used in …

Application of Uniform Manifold Approximation and Projection (UMAP) in spectral imaging of artworks

M Vermeulen, K Smith, K Eremin, G Rayner… - … Acta Part A: Molecular …, 2021 - Elsevier
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 …

[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 …

Genetic analysis of right heart structure and function in 40,000 people

JP Pirruccello, P Di Achille, V Nauffal, M Nekoui… - Nature …, 2022 - nature.com
Congenital heart diseases often involve maldevelopment of the evolutionarily recent right
heart chamber. To gain insight into right heart structure and function, we fine-tuned deep …