Selected article for: "allele frequency and International license"
Author: Rosanna Asselta; Elvezia Maria Paraboschi; Alberto Mantovani; Stefano Duga
Title: ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy
  • Document date: 2020_4_2
    • ID: hrottr01_17
    Snippet: We have therefore exploited the available data on 3,984 exomes obtained from an Italian cohort representative of the whole country 12, 13 to extract the variants in exons and splice junctions of ACE2. Variants were filtered for quality and classified according to their predicted effect at protein level and on splicing. Concerning rare variants (i.e. those with a minor allele frequency, MAF, <1%; to be used in burden tests), we considered only nul.....
    Document: We have therefore exploited the available data on 3,984 exomes obtained from an Italian cohort representative of the whole country 12, 13 to extract the variants in exons and splice junctions of ACE2. Variants were filtered for quality and classified according to their predicted effect at protein level and on splicing. Concerning rare variants (i.e. those with a minor allele frequency, MAF, <1%; to be used in burden tests), we considered only null variants, abolishing or significantly impairing protein production (nonsense, out-of-frame ins/dels, and splicing variants), and missense variants predicted to be deleterious or possibly deleterious by all the 5 prediction algorithms used (see Supplementary Methods). Concerning common variants (i.e., MAF>5%), all . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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