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 developing 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
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
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 …
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 …
[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 …
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 …