Advances in understanding erythropoiesis: evolving perspectives
Red blood cells (RBC s) are generated from haematopoietic stem and progenitor cells
(HSPC s) through the step‐wise process of differentiation known as erythropoiesis. In this …
(HSPC s) through the step‐wise process of differentiation known as erythropoiesis. In this …
[HTML][HTML] From genome to function by studying eQTLs
Genome-wide association studies (GWASs) have shown a large number of genetic variants
to be associated with complex diseases. The identification of the causal variant within an …
to be associated with complex diseases. The identification of the causal variant within an …
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 …
New genetic loci link adipose and insulin biology to body fat distribution
D Shungin, TW Winkler, DC Croteau-Chonka… - Nature, 2015 - nature.com
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic
outcomes, independent of overall adiposity. To increase our understanding of the genetic …
outcomes, independent of overall adiposity. To increase our understanding of the genetic …
Identification of context-dependent expression quantitative trait loci in whole blood
Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
Defining the role of common variation in the genomic and biological architecture of adult human height
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-
wide significance that together explained one-fifth of the heritability for adult height. By …
wide significance that together explained one-fifth of the heritability for adult height. By …
[HTML][HTML] Systematic functional dissection of common genetic variation affecting red blood cell traits
Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …
associations between common genetic variants and human disease phenotypes, but the …
Gene expression analysis identifies global gene dosage sensitivity in cancer
Many cancer-associated somatic copy number alterations (SCNAs) are known. Currently,
one of the challenges is to identify the molecular downstream effects of these variants …
one of the challenges is to identify the molecular downstream effects of these variants …
The impact of low-frequency and rare variants on lipid levels
Using a genome-wide screen of 9.6 million genetic variants achieved through 1000
Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 …
Genomes Project imputation in 62,166 samples, we identify association to lipid traits in 93 …
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment
A genome-wide association study (GWAS) of educational attainment was conducted in a
discovery sample of 101,069 individuals and a replication sample of 25,490. Three …
discovery sample of 101,069 individuals and a replication sample of 25,490. Three …