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 …
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 …
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
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …
[HTML][HTML] 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 …
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 …
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 …
transcriptional regulation. The vast majority of interactions are uncharted, constituting a …
Detection and interpretation of shared genetic influences on 42 human traits
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 …
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
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 …
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-mapping studies to date have been conducted in
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta …
Background Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and
assess glycemic control in patients with diabetes. Previous genome-wide association …
assess glycemic control in patients with diabetes. Previous genome-wide association …