[HTML][HTML] The genetics of major depression

J Flint, KS Kendler - Neuron, 2014 - cell.com
Major depression is the commonest psychiatric disorder and in the US has the greatest
impact of all biomedical diseases on disability. Here we review evidence of the genetic …

Molecular basis of β thalassemia and potential therapeutic targets

SL Thein - Blood Cells, Molecules, and Diseases, 2018 - Elsevier
The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Classification and personalized prognosis in myeloproliferative neoplasms

J Grinfeld, J Nangalia, EJ Baxter… - … England Journal of …, 2018 - Mass Medical Soc
Background Myeloproliferative neoplasms, such as polycythemia vera, essential
thrombocythemia, and myelofibrosis, are chronic hematologic cancers with varied …

The allelic landscape of human blood cell trait variation and links to common complex disease

WJ Astle, H Elding, T Jiang, D Allen, D Ruklisa… - Cell, 2016 - cell.com
Many common variants have been associated with hematological traits, but identification of
causal genes and pathways has proven challenging. We performed a genome-wide …

Lineage-specific genome architecture links enhancers and non-coding disease variants to target gene promoters

BM Javierre, OS Burren, SP Wilder, R Kreuzhuber… - Cell, 2016 - cell.com
Long-range interactions between regulatory elements and gene promoters play key roles in
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …

Detection and interpretation of shared genetic influences on 42 human traits

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung… - Nature …, 2016 - nature.com
We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study

PC Haycock, S Burgess, A Nounu, J Zheng… - JAMA …, 2017 - jamanetwork.com
Importance The causal direction and magnitude of the association between telomere length
and incidence of cancer and non-neoplastic diseases is uncertain owing to the susceptibility …

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

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

Piezo1 links mechanical forces to red blood cell volume

SM Cahalan, V Lukacs, SS Ranade, S Chien… - elife, 2015 - elifesciences.org
Red blood cells (RBCs) experience significant mechanical forces while recirculating, but the
consequences of these forces are not fully understood. Recent work has shown that gain-of …