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

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

Publikováno v: American Journal of Human Genetics, 108, 608-619
American Journal of Human Genetics, 108(4), 608-619. Cell Press
Am J Hum Genet
American Journal of Human Genetics, 108, 4, pp. 608-619

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 i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06e334b350d75a8cfb4f615b5bac15f7
https://doi.org/10.1016/j.ajhg.2021.03.004