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 …

Gene regulatory network inference in the era of single-cell multi-omics

P Badia-i-Mompel, L Wessels, S Müller-Dott… - Nature Reviews …, 2023 - nature.com
The interplay between chromatin, transcription factors and genes generates complex
regulatory circuits that can be represented as gene regulatory networks (GRNs). The study …

The human genetic epidemiology of COVID-19

MEK Niemi, MJ Daly, A Ganna - Nature Reviews Genetics, 2022 - nature.com
Human genetics can inform the biology and epidemiology of coronavirus disease 2019
(COVID-19) by pinpointing causal mechanisms that explain why some individuals become …

Bringing the animal QTLdb and CorrDB into the future: meeting new challenges and providing updated services

ZL Hu, CA Park, JM Reecy - Nucleic acids research, 2022 - academic.oup.com
Abstract The Animal QTLdb (https://www. animalgenome. org/QTLdb) and CorrDB
(https://www. animalgenome. org/CorrDB) are unique resources for livestock animal …

The complex genetic architecture of Alzheimer's disease: novel insights and future directions

SJ Andrews, AE Renton, B Fulton-Howard… - …, 2023 - thelancet.com
Background Alzheimer's disease (AD) is a complex multifactorial neurodegenerative
disorder and the most common form of dementia. AD is highly heritable, with heritability …

Challenges and opportunities for developing more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Leveraging base-pair mammalian constraint to understand genetic variation and human disease

PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li… - Science, 2023 - science.org
Thousands of genomic regions have been associated with heritable human diseases, but
attempts to elucidate biological mechanisms are impeded by an inability to discern which …

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

D Demontis, GB Walters, G Athanasiadis, R Walters… - Nature …, 2023 - nature.com
Attention-deficit hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder
with a major genetic component. Here, we present a genome-wide association study meta …

Microglial efferocytosis: diving into the Alzheimer's disease gene pool

C Romero-Molina, F Garretti, SJ Andrews, E Marcora… - Neuron, 2022 - cell.com
Genome-wide association studies and functional genomics studies have linked specific cell
types, genes, and pathways to Alzheimer's disease (AD) risk. In particular, AD risk alleles …

Large-scale plasma proteomics comparisons through genetics and disease associations

GH Eldjarn, E Ferkingstad, SH Lund, H Helgason… - Nature, 2023 - nature.com
High-throughput proteomics platforms measuring thousands of proteins in plasma combined
with genomic and phenotypic information have the power to bridge the gap between the …