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Article

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.

American journal of human genetics - 1 Apr 2021

Fridman Hila, Yntema Helger G, Mägi Reedik, Andreson Reidar, Metspalu Andres, Mezzavila Massimo, Tyler-Smith Chris, Xue Yali, Carmi Shai, Levy-Lahad Ephrat, Gilissen Christian, Brunner Han G

Abstract excerpt

The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6,447 exome sequences of healthy, genetically unrelated Europeans of two distinct ancestries, we estimate that every individual is a carrier of at least 2 pathogenic variants in currently known autosomal-recessive (AR) genes and that 0.8%-1% of European couples are at risk of having...

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Identifiers

PMID: 33740458
DOI: 10.1016/j.ajhg.2021.03.004
PMCID: PMC8059335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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