Applications of single-cell RNA sequencing in drug discovery and development

B Van de Sande, JS Lee, E Mutasa-Gottgens… - Nature Reviews Drug …, 2023 - nature.com
Single-cell technologies, particularly single-cell RNA sequencing (scRNA-seq) methods,
together with associated computational tools and the growing availability of public data …

[HTML][HTML] Empowering biomedical discovery with AI agents

S Gao, A Fang, Y Huang, V Giunchiglia, A Noori… - Cell, 2024 - cell.com
We envision" AI scientists" as systems capable of skeptical learning and reasoning that
empower biomedical research through collaborative agents that integrate AI models and …

CADD v1. 7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions

M Schubach, T Maass, L Nazaretyan… - Nucleic acids …, 2024 - academic.oup.com
Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

K Suzuki, K Hatzikotoulas, L Southam, HJ Taylor, X Yin… - Nature, 2024 - nature.com
Abstract Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes, and molecular mechanisms that are often specific to cell …

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

N Rahmioglu, S Mortlock, M Ghiasi, PL Møller… - Nature …, 2023 - nature.com
Endometriosis is a common condition associated with debilitating pelvic pain and infertility.
A genome-wide association study meta-analysis, including 60,674 cases and 701,926 …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Genomic inference of a severe human bottleneck during the Early to Middle Pleistocene transition

W Hu, Z Hao, P Du, F Di Vincenzo, G Manzi, J Cui… - Science, 2023 - science.org
Population size history is essential for studying human evolution. However, ancient
population size history during the Pleistocene is notoriously difficult to unravel. In this study …

Large-scale deep multi-layer analysis of Alzheimer's disease brain reveals strong proteomic disease-related changes not observed at the RNA level

ECB Johnson, EK Carter, EB Dammer, DM Duong… - Nature …, 2022 - nature.com
The biological processes that are disrupted in the Alzheimer's disease (AD) brain remain
incompletely understood. In this study, we analyzed the proteomes of more than 1,000 brain …