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Article

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

Annals of human genetics - 1 Mar 2012

Gialluisi Alessandro, Pippucci Tommaso, Anikster Yair, Ozbek Ugur, Medlej-Hashim Myrna, Mégarbané Andre, Romeo Giovanni

Abstract excerpt

In principle mutational records make it possible to estimate frequencies of disease alleles (q) for autosomal recessive disorders using a novel approach based on the calculation of the Homozygosity Index (HI), i.e., the proportion of homozygous patients, which is complementary to the proportion of compound heterozygous patients P(CH). In other words, the rarer the disorder, the higher will be the HI and the lower...

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PMID: 22188137
DOI: 10.1111/j.1469-1809.2011.00693.x

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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.

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