[HTML][HTML] Rare-variant association analysis: study designs and statistical tests
Despite the extensive discovery of trait-and disease-associated common variants, much of
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
the genetic contribution to complex traits remains unexplained. Rare variants can explain …
Rare-variant collapsing analyses for complex traits: guidelines and applications
The first phase of genome-wide association studies (GWAS) assessed the role of common
variation in human disease. Advances optimizing and economizing high-throughput …
variation in human disease. Advances optimizing and economizing high-throughput …
A polygenic burden of rare disruptive mutations in schizophrenia
Schizophrenia is a common disease with a complex aetiology, probably involving multiple
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …
and heterogeneous genetic factors. Here, by analysing the exome sequences of 2,536 …
[HTML][HTML] Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown
etiology. Recent studies employing exome-and genome-wide sequencing have identified …
etiology. Recent studies employing exome-and genome-wide sequencing have identified …
Statistical power and significance testing in large-scale genetic studies
PC Sham, SM Purcell - Nature Reviews Genetics, 2014 - nature.com
Significance testing was developed as an objective method for summarizing statistical
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …
evidence for a hypothesis. It has been widely adopted in genetic studies, including genome …
Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis
OBJECTIVE: The distinct trajectories of patients with autism spectrum disorders (ASDs) have
not been extensively studied, particularly regarding clinical manifestations beyond the …
not been extensively studied, particularly regarding clinical manifestations beyond the …
[HTML][HTML] Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC)(N=
2,591 families) replicates prior findings of strong association with autism spectrum disorders …
2,591 families) replicates prior findings of strong association with autism spectrum disorders …
Genetics and epigenetics of eating disorders
Z Yilmaz, JA Hardaway, CM Bulik - Advances in genomics and …, 2015 - Taylor & Francis
Eating disorders (EDs) are serious psychiatric conditions influenced by biological,
psychological, and sociocultural factors. A better understanding of the genetics of these …
psychological, and sociocultural factors. A better understanding of the genetics of these …
Large-scale genomics unveils the genetic architecture of psychiatric disorders
Family study results are consistent with genetic effects making substantial contributions to
risk of psychiatric disorders such as schizophrenia, yet robust identification of specific …
risk of psychiatric disorders such as schizophrenia, yet robust identification of specific …
Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms
AK Srivastava, CE Schwartz - Neuroscience & Biobehavioral Reviews, 2014 - Elsevier
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …
developmental disorders present in humans. Combined, they affect between 3 and 5% of …