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

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

Am J Hum Genet

Department of Human Genetics and Donders Center for Neuroscience, Radboud University Medical Centre, Nijmegen 6525 GA, the Netherlands; Department of Clinical Genetics, GROW-School for Oncology and Developmental Biology and MHENS School for Mental Health and Neuroscience, Maastricht University Medical Center, PO Box 5800, Maastricht 6202AZ, the Netherlands. Electronic address:

Published: April 2021

AI Article Synopsis

Article Abstract

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 a child affected with a severe AR genetic disorder. This risk is 16.5-fold higher for first cousins but is significantly more increased for skeletal disorders and intellectual disabilities due to their distinct genetic architecture.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8059335PMC
http://dx.doi.org/10.1016/j.ajhg.2021.03.004DOI Listing

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