Multimodal biomedical AI

JN Acosta, GJ Falcone, P Rajpurkar, EJ Topol - Nature medicine, 2022 - nature.com
The increasing availability of biomedical data from large biobanks, electronic health records,
medical imaging, wearable and ambient biosensors, and the lower cost of genome and …

Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

A single-cell atlas of chromatin accessibility in the human genome

K Zhang, JD Hocker, M Miller, X Hou, J Chiou… - Cell, 2021 - cell.com
Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Complement C1q-dependent excitatory and inhibitory synapse elimination by astrocytes and microglia in Alzheimer's disease mouse models

B Dejanovic, T Wu, MC Tsai, D Graykowski… - Nature Aging, 2022 - nature.com
Microglia and complement can mediate neurodegeneration in Alzheimer's disease (AD). By
integrative multi-omics analysis, here we show that astrocytic and microglial proteins are …

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 …

A compendium of genetic regulatory effects across pig tissues

J Teng, Y Gao, H Yin, Z Bai, S Liu, H Zeng… - Nature …, 2024 - nature.com
Abstract The Farm Animal Genotype-Tissue Expression (FarmGTEx) project has been
established to develop a public resource of genetic regulatory variants in livestock, which is …

Large-scale association analyses identify host factors influencing human gut microbiome composition

A Kurilshikov, C Medina-Gomez, R Bacigalupe… - Nature …, 2021 - nature.com
To study the effect of host genetics on gut microbiome composition, the MiBioGen
consortium curated and analyzed genome-wide genotypes and 16S fecal microbiome data …