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

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes

24 Feb 2010

Abstract excerpt

This short communication deals with the questions of how to calculate the expected proportion of compound heterozygous patients among affected offspring of consanguineous parents, and how, from an observed proportion of compound heterozygotes, to calculate both the proportion of homozygotes not identical by descent and the frequency of pathogenic alleles in the population. This estimate of allele frequency may be...

Read the complete abstract on PubMed

Topics

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

Share to Folate and B Vitamins Research
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 21475666
DOI: 10.1007/s12687-010-0002-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotesPMID 21475666Read ↗

Estimating the allele frequency of autosomal recessive disorders through mutational records and consanguinity: the Homozygosity Index (HI).Semantic proximity Read ↗

Estimating the Total Pathogenic Allele Frequency of Autosomal Recessive Disorders in Case of Consanguinity.Semantic proximity Read ↗

Recessive inheritance of von Willebrand's disease type I.Semantic proximity Read ↗

Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study.Semantic proximity Read ↗

The Abundance of Harmful Rare Homozygous Variants in Children of Consanguineous ParentsSemantic proximity Read ↗

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.Semantic proximity Read ↗

Population genetic screening efficiently identifies carriers of autosomal dominant diseasesSemantic proximity Read ↗

The abundance of harmful homozygous rare variants in children of consanguineous parentsSemantic proximity Read ↗

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