Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

PLoS genetics - 1 Jan 2013

He Xin, Sanders Stephan J, Liu Li, De Rubeis Silvia, Lim Elaine T, Sutcliffe James S, Schellenberg Gerard D, Gibbs Richard A, Daly Mark J, Buxbaum Joseph D, State Matthew W, Devlin Bernie, Roeder Kathryn

Abstract excerpt

De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bayes Theorem
Share to Case-Control Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child Development Disorders, Pervasive

Share to Likelihood Functions

Share to Models, Theoretical

Share to Risk Factors

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 23966865
DOI: 10.1371/journal.pgen.1003671
PMCID: PMC3744441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23966865-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.PMID 23966865Read ↗

A framework for the interpretation of de novo mutation in human disease.Semantic proximity Read ↗

The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability.Semantic proximity Read ↗

mTADA: a framework for analyzing de novo mutations in multiple traitsSemantic proximity Read ↗

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits.Semantic proximity Read ↗

A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.Semantic proximity Read ↗

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autismSemantic proximity Read ↗

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.Semantic proximity Read ↗

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.Semantic proximity Read ↗

A statistical framework for mapping risk genes from <i>de novo</i> mutations in whole-genome sequencing studiesSemantic proximity Read ↗

Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disordersSemantic proximity Read ↗

Patterns and rates of exonic de novo mutations in autism spectrum disorders.Semantic proximity Read ↗

De Novo Variants Predominate in Autism Spectrum DisorderSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.