From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases

E Cano-Gamez, G Trynka - Frontiers in genetics, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have successfully mapped thousands of loci
associated with complex traits. These associations could reveal the molecular mechanisms …

The multiplex model of the genetics of Alzheimer's disease

R Sims, M Hill, J Williams - Nature neuroscience, 2020 - nature.com
Genes play a strong role in Alzheimer's disease (AD), with late-onset AD showing heritability
of 58–79% and early-onset AD showing over 90%. Genetic association provides a robust …

Neuromaps: structural and functional interpretation of brain maps

RD Markello, JY Hansen, ZQ Liu, V Bazinet, G Shafiei… - Nature …, 2022 - nature.com
Imaging technologies are increasingly used to generate high-resolution reference maps of
brain structure and function. Comparing experimentally generated maps to these reference …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

MJ Gandal, P Zhang, E Hadjimichael, RL Walker… - Science, 2018 - science.org
INTRODUCTION Our understanding of the pathophysiology of psychiatric disorders,
including autism spectrum disorder (ASD), schizophrenia (SCZ), and bipolar disorder (BD) …

Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion

X Xiong, BT James, CA Boix, YP Park, K Galani… - Cell, 2023 - cell.com
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …

Comprehensive functional genomic resource and integrative model for the human brain

D Wang, S Liu, J Warrell, H Won, X Shi, FCP Navarro… - Science, 2018 - science.org
INTRODUCTION Strong genetic associations have been found for a number of psychiatric
disorders. However, understanding the underlying molecular mechanisms remains …

[HTML][HTML] Comparing spatial null models for brain maps

RD Markello, B Misic - NeuroImage, 2021 - Elsevier
Technological and data sharing advances have led to a proliferation of high-resolution
structural and functional maps of the brain. Modern neuroimaging research increasingly …

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

HK Finucane, YA Reshef, V Anttila, K Slowikowski… - Nature …, 2018 - nature.com
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …

Genetic insights into the neurodevelopmental origins of schizophrenia

R Birnbaum, DR Weinberger - Nature Reviews Neuroscience, 2017 - nature.com
Schizophrenia is a severe neuropsychiatric disorder with a longstanding history of
neurobiological investigation. Although the underlying causal mechanisms remain …