[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 …

Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

MetaboAnalyst 6.0: towards a unified platform for metabolomics data processing, analysis and interpretation

Z Pang, Y Lu, G Zhou, F Hui, L Xu, C Viau… - Nucleic acids …, 2024 - academic.oup.com
We introduce MetaboAnalyst version 6.0 as a unified platform for processing, analyzing, and
interpreting data from targeted as well as untargeted metabolomics studies using liquid …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Calculating polygenic risk scores (PRS) in UK Biobank: a practical guide for epidemiologists

JA Collister, X Liu, L Clifton - Frontiers in genetics, 2022 - frontiersin.org
A polygenic risk score estimates the genetic risk of an individual for some disease or trait,
calculated by aggregating the effect of many common variants associated with the condition …

Analysis of somatic mutations in whole blood from 200,618 individuals identifies pervasive positive selection and novel drivers of clonal hematopoiesis

N Bernstein, M Spencer Chapman, K Nyamondo… - Nature Genetics, 2024 - nature.com
Human aging is marked by the emergence of a tapestry of clonal expansions in dividing
tissues, particularly evident in blood as clonal hematopoiesis (CH). CH, linked to cancer risk …

A genetically informed Registered Report on adverse childhood experiences and mental health

JR Baldwin, HM Sallis, T Schoeler, MJ Taylor… - Nature human …, 2023 - nature.com
Children who experience adversities have an elevated risk of mental health problems.
However, the extent to which adverse childhood experiences (ACEs) cause mental health …

A cause–effect relationship between Graves' disease and the gut microbiome contributes to the thyroid–gut axis: a bidirectional two-sample Mendelian randomization …

J Cao, N Wang, Y Luo, C Ma, Z Chen… - Frontiers in …, 2023 - frontiersin.org
Background An association between Graves' disease (GD) and the gut microbiome has
been identified, but the causal effect between them remains unclear. Methods Bidirectional …

Interpreting omics data with pathway enrichment analysis

K Zhao, SY Rhee - Trends in Genetics, 2023 - cell.com
Pathway enrichment analysis is indispensable for interpreting omics datasets and
generating hypotheses. However, the foundations of enrichment analysis remain elusive to …

eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?

L Sun, Z Wang, T Lu, TA Manolio… - The American Journal of …, 2023 - cell.com
Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …