[HTML][HTML] Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders
PF Sullivan, DH Geschwind - Cell, 2019 - cell.com
Studies of the genetics of psychiatric disorders have become one of the most exciting and
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
fast-moving areas in human genetics. A decade ago, there were few reproducible findings …
[HTML][HTML] From GWAS to gene: transcriptome-wide association studies and other methods to functionally understand GWAS discoveries
B Li, MD Ritchie - Frontiers in genetics, 2021 - frontiersin.org
Since their inception, genome-wide association studies (GWAS) have identified more than a
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
hundred thousand single nucleotide polymorphism (SNP) loci that are associated with …
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups
Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are
highly heritable neurodevelopmental conditions, with considerable overlap in their genetic …
highly heritable neurodevelopmental conditions, with considerable overlap in their genetic …
[HTML][HTML] Trans effects on gene expression can drive omnigenic inheritance
Early genome-wide association studies (GWASs) led to the surprising discovery that, for
typical complex traits, most of the heritability is due to huge numbers of common variants …
typical complex traits, most of the heritability is due to huge numbers of common variants …
Sequential regulatory activity prediction across chromosomes with convolutional neural networks
Models for predicting phenotypic outcomes from genotypes have important applications to
understanding genomic function and improving human health. Here, we develop a machine …
understanding genomic function and improving human health. Here, we develop a machine …
Quantifying genetic effects on disease mediated by assayed gene expression levels
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …
Genetics of the human microglia regulome refines Alzheimer's disease risk loci
Microglia are brain myeloid cells that play a critical role in neuroimmunity and the etiology of
Alzheimer's disease (AD), yet our understanding of how the genetic regulatory landscape …
Alzheimer's disease (AD), yet our understanding of how the genetic regulatory landscape …
[HTML][HTML] Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood
Understanding the difference in genetic regulation of gene expression between brain and
blood is important for discovering genes for brain-related traits and disorders. Here, we …
blood is important for discovering genes for brain-related traits and disorders. Here, we …
Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection
Recent work has hinted at the linkage disequilibrium (LD)-dependent architecture of human
complex traits, where SNPs with low levels of LD (LLD) have larger per-SNP heritability …
complex traits, where SNPs with low levels of LD (LLD) have larger per-SNP heritability …
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Genome-wide association studies (GWAS) have identified over 100 risk loci for
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …
schizophrenia, but the causal mechanisms remain largely unknown. We performed a …