The technological landscape and applications of single-cell multi-omics

A Baysoy, Z Bai, R Satija, R Fan - Nature Reviews Molecular Cell …, 2023 - nature.com
Single-cell multi-omics technologies and methods characterize cell states and activities by
simultaneously integrating various single-modality omics methods that profile the …

Variant interpretation using population databases: Lessons from gnomAD

S Gudmundsson, M Singer‐Berk, NA Watts… - Human …, 2022 - Wiley Online Library
Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Towards a general-purpose foundation model for computational pathology

RJ Chen, T Ding, MY Lu, DFK Williamson, G Jaume… - Nature Medicine, 2024 - nature.com
Quantitative evaluation of tissue images is crucial for computational pathology (CPath) tasks,
requiring the objective characterization of histopathological entities from whole-slide images …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

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 …

Rare coding variants in ten genes confer substantial risk for schizophrenia

T Singh, T Poterba, D Curtis, H Akil, M Al Eissa… - Nature, 2022 - nature.com
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

JM Keaton, Z Kamali, T **e, A Vaez, A Williams… - Nature …, 2024 - nature.com
Hypertension affects more than one billion people worldwide. Here we identify 113 novel
loci, reporting a total of 2,103 independent genetic signals (P< 5× 10− 8) from the largest …

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing …

LC Walker, M de la Hoya, GAR Wiggins, A Lindy… - The American Journal of …, 2023 - cell.com
Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study

C Cao, J Wang, D Kwok, F Cui, Z Zhang… - Nucleic acids …, 2022 - academic.oup.com
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

Targeting IRG1 reverses the immunosuppressive function of tumor-associated macrophages and enhances cancer immunotherapy

YJ Chen, GN Li, XJ Li, LX Wei, MJ Fu, ZL Cheng… - Science …, 2023 - science.org
Immune-responsive gene 1 (IRG1) encodes aconitate decarboxylase (ACOD1) that
catalyzes the production of itaconic acids (ITAs). The anti-inflammatory function of IRG1/ITA …