The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.
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DOI: 10.1016/j.ajhg.2021.03.004
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… read more here.
Keywords: variants european; pathogenic variants; autosomal recessive; european populations ... See more keywords