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  • Using the plurality of codon positions to identify deleterious variants in human exomes

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    Author(s)
    Sankarasubramanian, Sankar
    Griffith University Author(s)
    Sankarasubramanian, Sankar
    Year published
    2015
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    Abstract
    Motivation: A codon position could perform different or multiple roles in alternative transcripts of a gene. For instance a nonsynonymous position in one transcript could be a synonymous site in another. Alternatively, a position could remain as nonsynonymous in multiple transcripts. Here we examined the impact of codon position plurality on the frequency of deleterious single nucleotide variations (SNVs) using data from 6500 human exomes. Results: Our results showed that the proportion of deleterious SNVs was more than twofold higher in positions that remain nonsynonymous in multiple transcripts compared to that observed ...
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    Motivation: A codon position could perform different or multiple roles in alternative transcripts of a gene. For instance a nonsynonymous position in one transcript could be a synonymous site in another. Alternatively, a position could remain as nonsynonymous in multiple transcripts. Here we examined the impact of codon position plurality on the frequency of deleterious single nucleotide variations (SNVs) using data from 6500 human exomes. Results: Our results showed that the proportion of deleterious SNVs was more than twofold higher in positions that remain nonsynonymous in multiple transcripts compared to that observed in positions that are nonsynonymous in one or some transcript(s) and synonymous or intronic in other(s). Furthermore we observed a positive relationship between the fraction of deleterious nonsynonymous SNVs and the number of proteins (alternative splice variants) affected. These results demonstrate that the plurality of codon positions is an important attribute, which could be useful in identifying mutations associated with diseases.
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    Journal Title
    Bioinformatics
    Volume
    31
    Issue
    3
    DOI
    https://doi.org/10.1093/bioinformatics/btu653
    Copyright Statement
    © 2015 Oxford University Press. This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Bioinformatics following peer review. The definitive publisher-authenticated version. Using the plurality of codon positions to identify deleterious variants in human exomes, Bioinformatics, Vol. 31 (3), 2015, pp. 301-305 is available online at: http://dx.doi.org/10.1093/bioinformatics/btu653.
    Subject
    Population, Ecological and Evolutionary Genetics
    Mathematical Sciences
    Biological Sciences
    Information and Computing Sciences
    Publication URI
    http://hdl.handle.net/10072/69185
    Collection
    • Journal articles

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