[HTML][HTML] Use of> 100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of …

MH Kowalski, H Qian, Z Hou, JD Rosen, AL Tapia… - PLoS …, 2019 - journals.plos.org
Most genome-wide association and fine-mapping studies to date have been conducted in
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …

Genetic variation influencing hemoglobin levels and risk for anemia across populations

PK Barrera‐Reyes, ME Tejero - … of the New York Academy of …, 2019 - Wiley Online Library
Hemoglobin (Hb) concentration is the outcome of the interaction between genetic variation
and environmental factors, including nutritional status, sex, age, and altitude. Genetic …

GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals

V Iotchkova, GRS Ritchie, M Geihs, S Morganella… - Nature …, 2019 - nature.com
Loci discovered by genome-wide association studies predominantly map outside protein-
coding genes. The interpretation of the functional consequences of non-coding variants can …

[HTML][HTML] Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

Nature communications, 2019 - nature.com
The human genetic factors that affect resistance to infectious disease are poorly understood.
Here we report a genome-wide association study in 17,000 severe malaria cases and …

New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders

E Evangelou, H Gao, C Chu, G Ntritsos… - Nature human …, 2019 - nature.com
Excessive alcohol consumption is one of the main causes of death and disability worldwide.
Alcohol consumption is a heritable complex trait. Here we conducted a meta-analysis of …

DBDS Genomic Cohort, a prospective and comprehensive resource for integrative and temporal analysis of genetic, environmental and lifestyle factors affecting health …

TF Hansen, K Banasik, C Erikstrup, OB Pedersen… - BMJ open, 2019 - bmjopen.bmj.com
Purpose To establish a cohort that enables identification of genomic factors that influence
human health and empower increased blood donor health and safe blood transfusions …

[HTML][HTML] Varicose veins of lower extremities: Insights from the first large-scale genetic study

AS Shadrina, SZ Sharapov, TI Shashkova… - PLoS …, 2019 - journals.plos.org
Varicose veins of lower extremities (VVs) are a common multifactorial vascular disease.
Genetic factors underlying VVs development remain largely unknown. Here we report the …

[HTML][HTML] The pleiotropic effects of GATA1 and KLF1 in physiological erythropoiesis and in dyserythropoietic disorders

G Barbarani, C Fugazza, J Strouboulis… - Frontiers in …, 2019 - frontiersin.org
In the last few years, the advent of new technological approaches has led to a better
knowledge of the ontogeny of erythropoiesis during development and of the journey leading …

[HTML][HTML] HOPS: a quantitative score reveals pervasive horizontal pleiotropy in human genetic variation is driven by extreme polygenicity of human traits and diseases

DM Jordan, M Verbanck, R Do - Genome biology, 2019 - Springer
Horizontal pleiotropy, where one variant has independent effects on multiple traits, is
important for our understanding of the genetic architecture of human phenotypes. We …

A systems biology pipeline identifies regulatory networks for stem cell engineering

MA Kinney, LT Vo, JM Frame, J Barragan… - Nature …, 2019 - nature.com
A major challenge for stem cell engineering is achieving a holistic understanding of the
molecular networks and biological processes governing cell differentiation. To address this …