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 …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

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 …

Large-scale integration of the plasma proteome with genetics and disease

E Ferkingstad, P Sulem, BA Atlason… - Nature …, 2021 - nature.com
The plasma proteome can help bridge the gap between the genome and diseases. Here we
describe genome-wide association studies (GWASs) of plasma protein levels measured with …

[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

[HTML][HTML] The UK Biobank resource with deep phenoty** and genomic data

C Bycroft, C Freeman, D Petkova, G Band, LT Elliott… - Nature, 2018 - nature.com
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data
collected on approximately 500,000 individuals from across the United Kingdom, aged …

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 …

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O'Connell, B Coombes… - Nature …, 2021 - nature.com
Bipolar disorder is a heritable mental illness with complex etiology. We performed a genome-
wide association study of 41,917 bipolar disorder cases and 371,549 controls of European …