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 …

[HTML][HTML] Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

…, PM Vidal, SE Medland, Y Milaneschi, A Moscati… - Nature …, 2022 - nature.com
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 …

[PDF][PDF] The polygenic and monogenic basis of blood traits and diseases

…, PK Albers, EM Wigdor, S Sakaue, A Moscati… - Cell, 2020 - cell.com
Blood cells play essential roles in human health, underpinning physiological processes
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 …

The genetic architecture of depression in individuals of East Asian ancestry: a genome-wide association study

…, PH Kuo, RE Peterson, S Awasthi, A Moscati… - JAMA …, 2021 - jamanetwork.com
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 …

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 …

[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 …

Dysregulation of a long noncoding RNA reduces leptin leading to a leptin-responsive form of obesity

…, G Fayzikhodjaeva, BD Dill, H Molina, A Moscati… - Nature medicine, 2019 - nature.com
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. …

[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 …

[HTML][HTML] Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank

…, ER Soper, JA Odgis, S Cullina, D Bobo, A Moscati… - Genome Medicine, 2020 - Springer
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 …