Focus on your locus with a massively parallel reporter assay
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …
been identified by genome-wide association and whole genome sequencing studies. As …
Functional characterization of human genomic variation linked to polygenic diseases
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
Integrative analyses highlight functional regulatory variants associated with neuropsychiatric diseases
Noncoding variants of presumed regulatory function contribute to the heritability of
neuropsychiatric disease. A total of 2,221 noncoding variants connected to risk for ten …
neuropsychiatric disease. A total of 2,221 noncoding variants connected to risk for ten …
Massively parallel techniques for cataloguing the regulome of the human brain
Complex brain disorders are highly heritable and arise from a complex polygenic risk
architecture. Many disease-associated loci are found in non-coding regions that house …
architecture. Many disease-associated loci are found in non-coding regions that house …
Genetic insights into immune mechanisms of Alzheimer's and Parkinson's disease
A Nott, IR Holtman - Frontiers in immunology, 2023 - frontiersin.org
Microglia, the macrophages of the brain, are vital for brain homeostasis and have been
implicated in a broad range of brain disorders. Neuroinflammation has gained traction as a …
implicated in a broad range of brain disorders. Neuroinflammation has gained traction as a …
Comprehensive mapping of genetic variation at Epromoters reveals pleiotropic association with multiple disease traits
J Wan, A van Ouwerkerk, JC Mouren… - Nucleic Acids …, 2024 - academic.oup.com
There is growing evidence that a wide range of human diseases and physiological traits are
influenced by genetic variation of cis-regulatory elements. We and others have shown that a …
influenced by genetic variation of cis-regulatory elements. We and others have shown that a …
High-throughput assays to assess variant effects on disease
K Ma, LO Gauthier, F Cheung… - Disease Models & …, 2024 - journals.biologists.com
Interpreting the wealth of rare genetic variants discovered in population-scale sequencing
efforts and deciphering their associations with human health and disease present a critical …
efforts and deciphering their associations with human health and disease present a critical …
Massively parallel reporter assays: defining functional psychiatric genetic variants across biological contexts
B Mulvey, T Lagunas Jr, JD Dougherty - Biological psychiatry, 2021 - Elsevier
Neuropsychiatric phenotypes have long been known to be influenced by heritable risk
factors, directly confirmed by the past decade of genetic studies that have revealed specific …
factors, directly confirmed by the past decade of genetic studies that have revealed specific …
Systematic investigation of allelic regulatory activity of schizophrenia-associated common variants
Genome-wide association studies (GWASs) have successfully identified 145 genomic
regions that contribute to schizophrenia risk, but linkage disequilibrium makes it challenging …
regions that contribute to schizophrenia risk, but linkage disequilibrium makes it challenging …
Excitatory neurons derived from human-induced pluripotent stem cells show transcriptomic differences in Alzheimer's patients from controls
The recent advances in creating pluripotent stem cells from somatic cells and differentiating
them into a variety of cell types is allowing us to study them without the caveats associated …
them into a variety of cell types is allowing us to study them without the caveats associated …