[HTML][HTML] 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 …
Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …
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 …
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …
[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals
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 …
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …
[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias
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 …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
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 …
alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with …
Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
[HTML][HTML] Genetic diversity fuels gene discovery for tobacco and alcohol use
Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
worldwide deaths, respectively, due largely to broad increased risk for disease and injury …
[HTML][HTML] Influence of the microbiome, diet and genetics on inter-individual variation in the human plasma metabolome
The levels of the thousands of metabolites in the human plasma metabolome are strongly
influenced by an individual's genetics and the composition of their diet and gut microbiome …
influenced by an individual's genetics and the composition of their diet and gut microbiome …
[HTML][HTML] 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 …