Selected article for: "DE gene and gene change"
Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
  • Document date: 2018_12_13
    • ID: j5jrpbst_30
    Snippet: The first patient has a 5' and 3'UTR de novo variant in FAM19A2 and GLRA2, respectively and the second patient also has a 3'UTR de novo change in the gene LRRC8D and a missense change in SNX30. One de novo variant was identified in the third proband in the gene FAM227A. Polyphen2 categories and CADD scores for each de novo variant as well as missense and loss-of-function constraint metric values for each gene (from ExAC) are also listed in Table .....
    Document: The first patient has a 5' and 3'UTR de novo variant in FAM19A2 and GLRA2, respectively and the second patient also has a 3'UTR de novo change in the gene LRRC8D and a missense change in SNX30. One de novo variant was identified in the third proband in the gene FAM227A. Polyphen2 categories and CADD scores for each de novo variant as well as missense and loss-of-function constraint metric values for each gene (from ExAC) are also listed in Table 2 . The z-score is a ratio of expected to identified missense variants in a particular gene, and pLI is a gene's probability of being loss-of-function intolerant. These constraint metrics are calculated using genomic data from controls without severe genetic diseases in the ExAC database (Monkol Lek et al., 2015) .

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