Advances in understanding erythropoiesis: evolving perspectives

SK Nandakumar, JC Ulirsch… - British journal of …, 2016 - Wiley Online Library
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 …

[HTML][HTML] From genome to function by studying eQTLs

HJ Westra, L Franke - Biochimica et Biophysica Acta (BBA)-molecular basis …, 2014 - Elsevier
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 …

Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases

EM Weeks, JC Ulirsch, NY Cheng, BL Trippe, RS Fine… - Nature …, 2023 - nature.com
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 …

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 …

Identification of context-dependent expression quantitative trait loci in whole blood

DV Zhernakova, P Deelen, M Vermaat, M Van Iterson… - Nature …, 2017 - nature.com
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 …

Defining the role of common variation in the genomic and biological architecture of adult human height

AR Wood, T Esko, J Yang, S Vedantam, TH Pers… - Nature …, 2014 - nature.com
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 …

[HTML][HTML] Systematic functional dissection of common genetic variation affecting red blood cell traits

JC Ulirsch, SK Nandakumar, L Wang, FC Giani… - Cell, 2016 - cell.com
Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …

Gene expression analysis identifies global gene dosage sensitivity in cancer

RSN Fehrmann, JM Karjalainen, M Krajewska… - Nature …, 2015 - nature.com
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 …

The impact of low-frequency and rare variants on lipid levels

I Surakka, M Horikoshi, R Mägi, AP Sarin, A Mahajan… - Nature …, 2015 - nature.com
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 …

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

CA Rietveld, SE Medland, J Derringer, J Yang, T Esko… - science, 2013 - science.org
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 …