Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Challenges and opportunities for develo** more generalizable polygenic risk scores
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …
diseases by aggregating information across multiple genetic variants identified from genome …
Genomic architecture of autism from comprehensive whole-genome sequence annotation
B Trost, B Thiruvahindrapuram, AJS Chan… - Cell, 2022 - cell.com
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …
The contributions of rare inherited and polygenic risk to ASD in multiplex families
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions
from both de novo and inherited variation. Few studies have been designed to address the …
from both de novo and inherited variation. Few studies have been designed to address the …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
[HTML][HTML] Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses
Estimates from Mendelian randomization studies of unrelated individuals can be biased due
to uncontrolled confounding from familial effects. Here we describe methods for within-family …
to uncontrolled confounding from familial effects. Here we describe methods for within-family …
Annual Research Review: Looking back to look forward–changes in the concept of autism and implications for future research
The concept of autism is a significant contribution from child psychiatry that has entered
wider culture and public consciousness, and has evolved significantly over the last four …
wider culture and public consciousness, and has evolved significantly over the last four …
[HTML][HTML] An expanded view of complex traits: from polygenic to omnigenic
A central goal of genetics is to understand the links between genetic variation and disease.
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Intuitively, one might expect disease-causing variants to cluster into key pathways that drive …
Autism spectrum disorder at the crossroad between genes and environment: contributions, convergences, and interactions in ASD developmental pathophysiology
The complex pathophysiology of autism spectrum disorder encompasses interactions
between genetic and environmental factors. On the one hand, hundreds of genes …
between genetic and environmental factors. On the one hand, hundreds of genes …
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …