Inherited causes of clonal haematopoiesis in 97,691 whole genomes
…, F Aguet, K Ardlie, BD Mitchell, KC Barnes, A Moscati… - Nature, 2020 - nature.com
Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown 1 . The age-related acquisition of …
through which ageing confers this risk are largely unknown 1 . The age-related acquisition of …
[HTML][HTML] Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
Although physical activity and sedentary behavior are moderately heritable, little is known
about the mechanisms that influence these traits. Combining data for up to 703,901 …
about the mechanisms that influence these traits. Combining data for up to 703,901 …
[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases
Blood cells play essential roles in human health, underpinning physiological processes
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
such as immunity, oxygen transport, and clotting, which when perturbed cause a significant …
[PDF][PDF] Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
…, A Mousas, S Sakaue, JE Huffman, A Moscati… - Cell, 2020 - cell.com
Most loci identified by GWASs have been found in populations of European ancestry (EUR).
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including …
The genetic architecture of depression in individuals of East Asian ancestry: a genome-wide association study
Importance Most previous genome-wide association studies (GWAS) of depression have used
data from individuals of European descent. This limits the understanding of the underlying …
data from individuals of European descent. This limits the understanding of the underlying …
Penetrance and pleiotropy of polygenic risk scores for schizophrenia in 106,160 patients across four health care systems
…, R Karlsson Linnér, A Moscati… - American Journal of …, 2019 - Am Psychiatric Assoc
Objective: Individuals at high risk for schizophrenia may benefit from early intervention, but
few validated risk predictors are available. Genetic profiling is one approach to risk …
few validated risk predictors are available. Genetic profiling is one approach to risk …
[PDF][PDF] Toward a fine-scale population health monitoring system
…, ER Soper, BS Glicksberg, D Torre, A Moscati… - Cell, 2021 - cell.com
Understanding population health disparities is an essential component of equitable precision
health efforts. Epidemiology research often relies on definitions of race and ethnicity, but …
health efforts. Epidemiology research often relies on definitions of race and ethnicity, but …
Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity
Quantitative changes in leptin concentration lead to alterations in food intake and body weight,
but the regulatory mechanisms that control leptin gene expression are poorly understood. …
but the regulatory mechanisms that control leptin gene expression are poorly understood. …
[HTML][HTML] The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population
N Chami, M Preuss, RW Walker, A Moscati… - PLoS …, 2020 - journals.plos.org
Background Melanocortin 4 receptor (MC4R) deficiency, caused by mutations in MC4R, is
the most common cause of monogenic forms of obesity. However, these mutations have often …
the most common cause of monogenic forms of obesity. However, these mutations have often …
[HTML][HTML] Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank
Background Pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) lead to increased risk of
breast, ovarian, and other cancers, but most variant-positive individuals in the general …
breast, ovarian, and other cancers, but most variant-positive individuals in the general …