Multi-omics profiling for health

M Babu, M Snyder - Molecular & Cellular Proteomics, 2023 - mcponline.org
The world has witnessed a steady rise in both non-infectious and infectious chronic
diseases, prompting a cross-disciplinary approach to understand and treating disease …

Pleiotropy, epistasis and the genetic architecture of quantitative traits

TFC Mackay, RRH Anholt - Nature Reviews Genetics, 2024 - nature.com
Pleiotropy (whereby one genetic polymorphism affects multiple traits) and epistasis
(whereby non-linear interactions between genetic polymorphisms affect the same trait) are …

Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets

JH Zhao, D Stacey, N Eriksson… - Nature …, 2023 - nature.com
Circulating proteins have important functions in inflammation and a broad range of diseases.
To identify genetic influences on inflammation-related proteins, we conducted a genome …

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 …

Nucleotide Transformer: building and evaluating robust foundation models for human genomics

H Dalla-Torre, L Gonzalez, J Mendoza-Revilla… - Nature …, 2024 - nature.com
The prediction of molecular phenotypes from DNA sequences remains a longstanding
challenge in genomics, often driven by limited annotated data and the inability to transfer …

Common and rare variant associations with clonal haematopoiesis phenotypes

MD Kessler, A Damask, S O'Keeffe, N Banerjee, D Li… - Nature, 2022 - nature.com
Clonal haematopoiesis involves the expansion of certain blood cell lineages and has been
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …

Map** genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou… - Nature, 2022 - nature.com
Schizophrenia has a heritability of 60–80%, much of which is attributable to common risk
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

K Kiryluk, E Sanchez-Rodriguez, XJ Zhou, F Zanoni… - Nature …, 2023 - nature.com
IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular
deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney …

Single-cell eQTL map** identifies cell type–specific genetic control of autoimmune disease

S Yazar, J Alquicira-Hernandez, K Wing, A Senabouth… - Science, 2022 - science.org
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu… - Nature, 2023 - nature.com
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype
that we have previously shown to be highly efficient for discovery of genetic associations …