Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Advances in data preprocessing for biomedical data fusion: An overview of the methods, challenges, and prospects
Due to the proliferation of biomedical imaging modalities, such as Photoacoustic
Tomography, Computed Tomography (CT), Optical Microscopy and Tomography, etc …
Tomography, Computed Tomography (CT), Optical Microscopy and Tomography, etc …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
Polygenic architecture of rare coding variation across 394,783 exomes
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …
Genome-wide association studies have identified thousands of common-variant …
Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism
We report a genome-wide association study of venous thromboembolism (VTE)
incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts. We identify 93 …
incorporating 81,190 cases and 1,419,671 controls sampled from six cohorts. We identify 93 …
Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …
ancestry segments (local ancestry) originating from multiple continental ancestral …
Biobank-scale inference of ancestral recombination graphs enables genealogical analysis of complex traits
BC Zhang, A Biddanda, ÁF Gunnarsson, F Cooper… - Nature Genetics, 2023 - nature.com
Genome-wide genealogies compactly represent the evolutionary history of a set of genomes
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
and inferring them from genetic data has the potential to facilitate a wide range of analyses …
[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Multi-ethnic genome-wide association study for atrial fibrillation
C Roselli, MD Chaffin, LC Weng, S Aeschbacher… - Nature …, 2018 - nature.com
Atrial fibrillation (AF) affects more than 33 million individuals worldwide and has a complex
heritability. We conducted the largest meta-analysis of genome-wide association studies …
heritability. We conducted the largest meta-analysis of genome-wide association studies …
A resource-efficient tool for mixed model association analysis of large-scale data
The genome-wide association study (GWAS) has been widely used as an experimental
design to detect associations between genetic variants and a phenotype. Two major …
design to detect associations between genetic variants and a phenotype. Two major …