Article

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

2020-11-17

Abstract excerpt

The number and distribution of recessive alleles in the population for various diseases are not known at genome-wide-scale. Based on 6447 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...

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Literature Corpus work: 8cb1474d-e2c2-5b70-9c5a-290dcf1fab40
DOI: 10.1101/2020.11.16.384206

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