Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

Developing and evaluating polygenic risk prediction models for stratified disease prevention

N Chatterjee, J Shi, M García-Closas - Nature Reviews Genetics, 2016 - nature.com
Abstract Knowledge of genetics and its implications for human health is rapidly evolving in
accordance with recent events, such as discoveries of large numbers of disease …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and …

J Zheng, AM Erzurumluoglu, BL Elsworth… - …, 2017 - academic.oup.com
Motivation LD score regression is a reliable and efficient method of using genome-wide
association study (GWAS) summary-level results data to estimate the SNP heritability of …

Partitioning heritability by functional annotation using genome-wide association summary statistics

HK Finucane, B Bulik-Sullivan, A Gusev, G Trynka… - Nature …, 2015 - nature.com
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …

Concepts, estimation and interpretation of SNP-based heritability

J Yang, J Zeng, ME Goddard, NR Wray, PM Visscher - Nature genetics, 2017 - nature.com
Abstract Narrow-sense heritability (h 2) is an important genetic parameter that quantifies the
proportion of phenotypic variance in a trait attributable to the additive genetic variation …

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

Linkage disequilibrium–dependent architecture of human complex traits shows action of negative selection

S Gazal, HK Finucane, NA Furlotte, PR Loh… - Nature …, 2017 - nature.com
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 …

The impact of rare and low-frequency genetic variants in common disease

L Bomba, K Walter, N Soranzo - Genome biology, 2017 - Springer
Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan… - Nature …, 2013 - nature.com
Most psychiatric disorders are moderately to highly heritable. The degree to which genetic
variation is unique to individual disorders or shared across disorders is unclear. To examine …