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[HTML][HTML] The genetics of major depression
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 …
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
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 …
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 …
individuals of European descent, and genetic studies of populations of Hispanic/Latino and …
Piezo1 links mechanical forces to red blood cell volume
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 …
consequences of these forces are not fully understood. Recent work has shown that gain-of …