Multimodal biomedical AI
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 …
medical imaging, wearable and ambient biosensors, and the lower cost of genome and …
UK Biobank: a globally important resource for cancer research
MC Conroy, B Lacey, J Bešević, W Omiyale… - British Journal of …, 2023 - nature.com
UK Biobank is a large-scale prospective study with deep phenotyping and genomic data. Its
open-access policy allows researchers worldwide, from academia or industry, to perform …
open-access policy allows researchers worldwide, from academia or industry, to perform …
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
Exome sequencing and analysis of 454,787 UK Biobank participants
JD Backman, AH Li, A Marcketta, D Sun, J Mbatchou… - Nature, 2021 - nature.com
A major goal in human genetics is to use natural variation to understand the phenotypic
consequences of altering each protein-coding gene in the genome. Here we used exome …
consequences of altering each protein-coding gene in the genome. Here we used exome …
The sequences of 150,119 genomes in the UK Biobank
BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …
phenotypic diversity depends on a comprehensive and reliable characterization of both …
Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank
H Julkunen, A Cichońska, M Tiainen, H Koskela… - Nature …, 2023 - nature.com
Blood lipids and metabolites are markers of current health and future disease risk. Here, we
describe plasma nuclear magnetic resonance (NMR) biomarker data for 118,461 …
describe plasma nuclear magnetic resonance (NMR) biomarker data for 118,461 …
Plasma proteomic associations with genetics and health in the UK Biobank
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …
Rare variant contribution to human disease in 281,104 UK Biobank exomes
Genome-wide association studies have uncovered thousands of common variants
associated with human disease, but the contribution of rare variants to common disease …
associated with human disease, but the contribution of rare variants to common disease …
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 …
associated with ageing and adverse health outcomes,,,–. Here we use exome sequence …
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis
SP Kar, PM Quiros, M Gu, T Jiang, J Mitchell… - Nature Genetics, 2022 - nature.com
Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven
by somatic driver mutations, affects over a third of people, yet remains poorly understood …
by somatic driver mutations, affects over a third of people, yet remains poorly understood …