[HTML][HTML] 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 …

[HTML][HTML] 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 …

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 …

Identification of non-coding silencer elements and their regulation of gene expression

B Pang, JH van Weerd, FL Hamoen… - … Reviews Molecular Cell …, 2022 - nature.com
Cell type-and differentiation-specific gene expression is precisely controlled by genomic non-
coding regulatory elements (NCREs), which include promoters, enhancers, silencers and …

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 …

Microbiome epidemiology and association studies in human health

H VanEvery, EA Franzosa, LH Nguyen… - Nature Reviews …, 2023 - nature.com
Studies of the human microbiome share both technical and conceptual similarities with
genome-wide association studies and genetic epidemiology. However, the microbiome has …

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 …

PROBER identifies proteins associated with programmable sequence-specific DNA in living cells

S Mondal, M Ramanathan, W Miao, RM Meyers… - Nature …, 2022 - nature.com
DNA–protein interactions mediate physiologic gene regulation and may be altered by DNA
variants linked to polygenic disease. To enhance the speed and signal-to-noise ratio (SNR) …

Research Review: How to interpret associations between polygenic scores, environmental risks, and phenotypes

JB Pingault, AG Allegrini, T Odigie… - Journal of Child …, 2022 - Wiley Online Library
Background Genetic influences are ubiquitous as virtually all phenotypes and most
exposures typically classified as environmental have been found to be heritable. A …