Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Here we conducted a large-scale genetic association analysis of educational attainment in a
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
sample of approximately 1.1 million individuals and identify 1,271 independent genome …
Molecular and cellular mechanisms that regulate human erythropoiesis
To enable effective oxygen transport,∼ 200 billion red blood cells (RBCs) need to be
produced every day in the bone marrow through the fine-tuned process of erythropoiesis …
produced every day in the bone marrow through the fine-tuned process of erythropoiesis …
Emerging genetic therapy for sickle cell disease
SH Orkin, DE Bauer - Annual review of medicine, 2019 - annualreviews.org
The genetic basis of sickle cell disease (SCD) was elucidated> 60 years ago, yet current
therapy does not rely on this knowledge. Recent advances raise prospects for improved …
therapy does not rely on this knowledge. Recent advances raise prospects for improved …
Single-cell analyses identify brain mural cells expressing CD19 as potential off-tumor targets for CAR-T immunotherapies
CD19-directed immunotherapies are clinically effective for treating B cell malignancies but
also cause a high incidence of neurotoxicity. A subset of patients treated with chimeric …
also cause a high incidence of neurotoxicity. A subset of patients treated with chimeric …
Direct promoter repression by BCL11A controls the fetal to adult hemoglobin switch
Fetal hemoglobin (HbF, α 2 γ 2) level is genetically controlled and modifies severity of adult
hemoglobin (HbA, α 2 β 2) disorders, sickle cell disease, and β-thalassemia. Common …
hemoglobin (HbA, α 2 β 2) disorders, sickle cell disease, and β-thalassemia. Common …
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases
Genome-wide association studies (GWASs) are a valuable tool for understanding the
biology of complex human traits and diseases, but associated variants rarely point directly to …
biology of complex human traits and diseases, but associated variants rarely point directly to …
GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium
The complex nature of human cognition has resulted in cognitive genomics lagging behind
many other fields in terms of gene discovery using genome-wide association study (GWAS) …
many other fields in terms of gene discovery using genome-wide association study (GWAS) …
Quantifying the contribution of recessive coding variation to developmental disorders
We estimated the genome-wide contribution of recessive coding variation in 6040 families
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …
from the Deciphering Developmental Disorders study. The proportion of cases attributable to …
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development
Genetic investigations of people with impaired development of spoken language provide
windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most …
windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most …
Cultural evolution of genetic heritability
Behavioral genetics and cultural evolution have both revolutionized our understanding of
human behavior–largely independent of each other. Here, we reconcile these two fields …
human behavior–largely independent of each other. Here, we reconcile these two fields …