Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required
for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …
for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …
Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome
JS Tyrmi, RK Arffman, N Pujol-Gualdo… - Human …, 2022 - academic.oup.com
STUDY QUESTION Can we identify novel variants associated with polycystic ovary
syndrome (PCOS) by leveraging the unique population history of Northern Europe …
syndrome (PCOS) by leveraging the unique population history of Northern Europe …
Mapping the epigenomic landscape of human monocytes following innate immune activation reveals context-specific mechanisms driving endotoxin tolerance
HE Amarasinghe, P Zhang, JP Whalley, A Allcock… - BMC genomics, 2023 - Springer
Background Monocytes are key mediators of innate immunity to infection, undergoing
profound and dynamic changes in epigenetic state and immune function which are broadly …
profound and dynamic changes in epigenetic state and immune function which are broadly …
Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance
P Zhang, HE Amarasinghe, JP Whalley, C Tay, H Fang… - Genome Biology, 2022 - Springer
Background Chromatin states and enhancers associate gene expression, cell identity and
disease. Here, we systematically delineate the acute innate immune response to endotoxin …
disease. Here, we systematically delineate the acute innate immune response to endotoxin …
[HTML][HTML] Genetic architecture of gene regulation in Indonesian populations identifies QTLs associated with global and local ancestries
Lack of diversity in human genomics limits our understanding of the genetic underpinnings
of complex traits, hinders precision medicine, and contributes to health disparities. To map …
of complex traits, hinders precision medicine, and contributes to health disparities. To map …
[HTML][HTML] The genetic overlap between Alzheimer's disease, amyotrophic lateral sclerosis, Lewy body dementia, and Parkinson's disease
Neurodegenerative diseases are a group of disorders characterized by neuronal cell death
causing a variety of physical and mental problems. While these disorders can be …
causing a variety of physical and mental problems. While these disorders can be …
Deletion mapping of regulatory elements for GATA3 in T cells reveals a distal enhancer involved in allergic diseases
GATA3 is essential for T cell differentiation and is surrounded by genome-wide association
study (GWAS) hits for immune traits. Interpretation of these GWAS hits is challenging …
study (GWAS) hits for immune traits. Interpretation of these GWAS hits is challenging …
Fine mapping with epigenetic information and 3D structure
G Orozco - Seminars in Immunopathology, 2022 - Springer
Since 2005, thousands of genome-wide association studies (GWAS) have been published,
identifying hundreds of thousands of genetic variants that increase risk of complex traits …
identifying hundreds of thousands of genetic variants that increase risk of complex traits …
Genetic and environmental determinants of diastolic heart function
Diastole is the sequence of physiological events that occur in the heart during ventricular
filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal …
filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal …
[HTML][HTML] Increasing diversity of functional genetics studies to advance biological discovery and human health
In this perspective we discuss the current lack of genetic and environmental diversity in
functional genomics datasets. There is a well-described Eurocentric bias in genetic and …
functional genomics datasets. There is a well-described Eurocentric bias in genetic and …