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

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.

Genome research - 1 Apr 2014

King Daniel A, Fitzgerald Tomas W, Miller Ray, Canham Natalie, Clayton-Smith Jill, Johnson Diana, Mansour Sahar, Stewart Fiona, Vasudevan Pradeep, Hurles Matthew E

Abstract excerpt

Exome sequencing of parent-offspring trios is a popular strategy for identifying causative genetic variants in children with rare diseases. This method owes its strength to the leveraging of inheritance information, which facilitates de novo variant calling, inference of compound heterozygosity, and the identification of inheritance anomalies. Uniparental disomy describes the inheritance of a homologous...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Chromosome Mapping

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Databases, Genetic

Share to Developmental Disabilities

Share to Parent-Child Relations

Share to Polymorphism, Single Nucleotide

Share to Software

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 24356988
DOI: 10.1101/gr.160465.113
PMCID: PMC3975066

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.PMID 24356988Read ↗

Uniparental disomy in a population of 32,067 clinical exome triosSemantic proximity Read ↗

Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General PopulationSemantic proximity Read ↗

Accurate detection of clinically relevant uniparental disomy from exome sequencing data.Semantic proximity Read ↗

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodSemantic proximity Read ↗

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Semantic proximity Read ↗

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general populationSemantic proximity Read ↗

Evaluating the Diagnostic Yield of Prenatal Trio Exome Sequencing in Families With a History of Developmental Delay and Intellectual Disability.Semantic proximity Read ↗

Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental DisordersSemantic proximity Read ↗

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Semantic proximity Read ↗

Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal settingSemantic proximity Read ↗

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disordersSemantic proximity Read ↗

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Semantic proximity Read ↗

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