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 …

[PDF][PDF] 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 …

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

Unraveling the polygenic architecture of complex traits using blood eQTL metaanalysis

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - BioRxiv, 2018 - biorxiv.org
While many disease-associated variants have been identified through genome-wide
association studies, their downstream molecular consequences remain unclear. To identify …

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

TG Richardson, S Harrison, G Hemani, G Davey Smith - Elife, 2019 - elifesciences.org
The age of large-scale genome-wide association studies (GWAS) has provided us with an
unprecedented opportunity to evaluate the genetic liability of complex disease using …

Right care, first time: a highly personalised and measurement‐based care model to manage youth mental health

IB Hickie, EM Scott, SP Cross, F Iorfino… - Medical Journal of …, 2019 - Wiley Online Library
Mood and psychotic syndromes most often emerge during adolescence and young
adulthood, a period characterised by major physical and social change. Consequently, the …

Polygenic risk score contribution to psychosis prediction in a target population of persons at clinical high risk

DO Perkins, L Olde Loohuis, J Barbee… - American Journal of …, 2020 - Am Psychiatric Assoc
Objective: The 2-year risk of psychosis in persons who meet research criteria for a high-risk
syndrome is about 15%− 25%; improvements in risk prediction accuracy would benefit the …

[PDF][PDF] Psoriasis and genetics

N Dand, SK Mahil, F Capon, CH Smith… - Acta Derm …, 2020 - core.ac.uk
Theme issue: Psoriasis loci. Despite the complex correlation structure across the MHC due
to extensive linkage disequilibrium (Box 1)(16), HLA-C* 06: 02 is now confidently …

[PDF][PDF] Stem cells, genome editing, and the path to translational medicine

F Soldner, R Jaenisch - Cell, 2018 - cell.com
The derivation of human embryonic stem cells (hESCs) and the stunning discovery that
somatic cells can be reprogrammed into human induced pluripotent stem cells (hiPSCs) …

[PDF][PDF] Localizing components of shared transethnic genetic architecture of complex traits from GWAS summary data

H Shi, KS Burch, R Johnson, MK Freund… - The American Journal of …, 2020 - cell.com
Despite strong transethnic genetic correlations reported in the literature for many complex
traits, the non-transferability of polygenic risk scores across populations suggests the …