[HTML][HTML] Large-scale plasma proteomics comparisons through genetics and disease associations
High-throughput proteomics platforms measuring thousands of proteins in plasma combined
with genomic and phenotypic information have the power to bridge the gap between the …
with genomic and phenotypic information have the power to bridge the gap between the …
Quality control and analytic best practices for testing genetic models of sex differences in large populations
Phenotypic sex-based differences exist for many complex traits. In other cases, phenotypes
may be similar, but underlying biology may vary. Thus, sex-aware genetic analyses are …
may be similar, but underlying biology may vary. Thus, sex-aware genetic analyses are …
[HTML][HTML] Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci
X Han, P Gharahkhani, AR Hamel, JS Ong… - Nature …, 2023 - nature.com
Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease.
Previous genome-wide association studies have identified over 100 loci for the most …
Previous genome-wide association studies have identified over 100 loci for the most …
[HTML][HTML] Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis
SN Stacey, F Zink, GH Halldorsson, L Stefansdottir… - Nature Genetics, 2023 - nature.com
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of …
Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease
The human leukocyte antigen (HLA) locus is associated with more complex diseases than
any other locus in the human genome. In many diseases, HLA explains more heritability …
any other locus in the human genome. In many diseases, HLA explains more heritability …
[HTML][HTML] 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 …
Inference of chronic obstructive pulmonary disease with deep learning on raw spirograms identifies new genetic loci and improves risk models
Chronic obstructive pulmonary disease (COPD), the third leading cause of death worldwide,
is highly heritable. While COPD is clinically defined by applying thresholds to summary …
is highly heritable. While COPD is clinically defined by applying thresholds to summary …
[HTML][HTML] Studying the genetics of participation using footprints left on the ascertained genotypes
S Benonisdottir, A Kong - Nature Genetics, 2023 - nature.com
The trait of participating in a genetic study probably has a genetic component. Identifying this
component is difficult as we cannot compare genetic information of participants with …
component is difficult as we cannot compare genetic information of participants with …
Boosting the power of genome-wide association studies within and across ancestries by using polygenic scores
Genome-wide association studies (GWASs) have been mostly conducted in populations of
European ancestry, which currently limits the transferability of their findings to other …
European ancestry, which currently limits the transferability of their findings to other …
The genetic architecture and evolution of the human skeletal form
The human skeletal form underlies bipedalism, but the genetic basis of skeletal proportions
(SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the …
(SPs) is not well characterized. We applied deep-learning models to 31,221 x-rays from the …