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

Testing for modes of inheritance involving compound heterozygotes.

Genetic epidemiology - 1 Jul 2013

Bacanu Silviu-Alin

Abstract excerpt

Functional variants change the protein product or the expression of genes. Due to the latest advances in sequencing technology, most known functional variants can now be assayed in a cost-effective manner. However, to fully use the information from functional variants, researchers need to model t...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Case-Control Studies
Share to Computer Simulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome-Wide Association Study

Share to Heterozygote

Share to Inheritance Patterns

Share to Models, Genetic

Source

Identifiers

PMID: 23633151
DOI: 10.1002/gepi.21732

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23633151-2026-09-04.2. 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

Testing for modes of inheritance involving compound heterozygotes.PMID 23633151Read ↗

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.Semantic proximity Read ↗

Detecting low frequent loss-of-function alleles in genome wide association studies with red hair color as example.Semantic proximity Read ↗

LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variantsSemantic proximity Read ↗

CollapsABEL: an R library for detecting compound heterozygote alleles in genome-wide association studies.Semantic proximity Read ↗

Gene dosage effects: nonlinearities, genetic interactions, and dosage compensation.Semantic proximity Read ↗

Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions.Semantic proximity Read ↗

A model of compound heterozygous, loss-of-function alleles is broadly consistent with observations from complex-disease GWAS datasetsSemantic proximity Read ↗

A Model of Compound Heterozygous, Loss-of-Function Alleles Is Broadly Consistent with Observations from Complex-Disease GWAS Datasets.Semantic proximity Read ↗

On rare-variant analysis in population-based designs: decomposing the likelihood to two informative components.Semantic proximity Read ↗

Considerations in assessing germline variant pathogenicity using cosegregation analysis.Semantic proximity Read ↗

An Algorithm for Optimal Testing in Co-segregation AnalysisSemantic proximity Read ↗

Power calculations for likelihood ratio tests for offspring genotype risks, maternal effects, and parent-of-origin (POO) effects in the presence of missing parental genotypes when unaffected siblings are available.Semantic proximity Read ↗

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