[PDF][PDF] 10 years of GWAS discovery: biology, function, and translation

PM Visscher, NR Wray, Q Zhang, P Sklar… - The American Journal of …, 2017 - cell.com
Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …

Molecular genetics of attention-deficit/hyperactivity disorder

…, JW Smoller, JJ Goralnick, MA Holmgren, P Sklar - Biological …, 2005 - Elsevier
Results of behavioral genetic and molecular genetic studies have converged to suggest that
both genetic and nongenetic factors contribute to the development of attention-deficit/…

Genetics of bipolar disorder

N Craddock, P Sklar - The Lancet, 2013 - thelancet.com
Studies of families and twins show the importance of genetic factors affecting susceptibility
to bipolar disorder and suggest substantial genetic and phenotypic complexity. Robust and …

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

, … Naomi R. 5 Macgregor Stuart 5 Sklar Pamela sklar … - Nature, 2009 - nature.com
P values, increasing proportions will be detected at increasingly liberal significance thresholds
(P T ), for example, P T < 0.1 or P T … alleles at different association test P T thresholds. For …

Biological insights from 108 schizophrenia-associated genetic loci

…, M Rietschel, BP Riley, D Rujescu, PC Sham, P Sklar… - Nature, 2014 - nature.com
Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

[HTML][HTML] Analysis of protein-coding genetic variation in 60,706 humans

…, A Palotie, SM Purcell, D Saleheen, JM Scharf, P Sklar… - Nature, 2016 - nature.com
Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

[PDF][PDF] PLINK: a tool set for whole-genome association and population-based linkage analyses

…, MAR Ferreira, D Bender, J Maller, P Sklar… - The American journal of …, 2007 - cell.com
… In fact, if we divide the sample J56 P p 9 # 10 into individuals … ), N p 213 N p 333 then all
instances of genotyping failure at … It J13 P p 7.6 # 10 would seem that, in this particular case, …

[HTML][HTML] Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

…, ES Lander, PF Sullivan, P Sklar… - … England Journal of …, 2014 - Mass Medical Soc
Background Cancers arise from multiple acquired mutations, which presumably occur over
many years. Early stages in cancer development might be present years before cancers …

Synaptic, transcriptional and chromatin genes disrupted in autism

…, T Lehner, A Palotie, GD Schellenberg, P Sklar… - Nature, 2014 - nature.com
The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

…, A Reif, LA Rohde, P Roussos, R Schachar, P Sklar… - Nature …, 2019 - nature.com
Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral
disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute …