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

Familial cosegregation of rare genetic variants with disease in complex disorders.

European journal of human genetics : EJHG - 1 Apr 2013

Helbig Ingo, Hodge Susan E, Ottman Ruth

Abstract excerpt

Family-based designs are increasingly being used for identification of rare variants in complex disorders. This paper addresses two questions related to the utility of these designs. First, under what circumstances are rare disease-related variants expected to cosegregate with disease in families...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 15
Share to Epilepsy, Generalized
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Genetic Loci

Share to Models, Genetic

Share to Population

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 23010752
DOI: 10.1038/ejhg.2012.194
PMCID: PMC3598309

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23010752-2026-09-04.2. 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

Familial cosegregation of rare genetic variants with disease in complex disorders.PMID 23010752Read ↗

Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs.Semantic proximity Read ↗

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.Semantic proximity Read ↗

TRIO RVEMVS: A Bayesian framework for rare variant association analysis with expectation-maximization variable selection using family trio data.Semantic proximity Read ↗

How many cases of disease in a pedigree imply familial disease?Semantic proximity Read ↗

Inferring Disease Risk Genes from Sequencing Data in Multiplex Pedigrees Through Sharing of Rare VariantsSemantic proximity Read ↗

RetroFun-RVS: a retrospective family-based framework for rare variant analysis incorporating functional annotationsSemantic proximity Read ↗

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data.Semantic proximity Read ↗

Detecting Rare Mutations with Heterogeneous Effects Using a Family-Based Genetic Random Field Method.Semantic proximity Read ↗

Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease.Semantic proximity Read ↗

Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives.Semantic proximity Read ↗

Efficient genome-wide association testing of gene-environment interaction in case-parent trios.Semantic proximity Read ↗

Detecting X-linked common and rare variant effects in family-based sequencing studies.Semantic proximity Read ↗

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