Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis

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  • Prashanth Suravajhala
  • ,
  • Alfredo Benso, Politecnico di Torino

Next-generation sequencing technology has provided resources to easily explore and identify candidate single-nucleotide polymorphisms (SNPs) and variants. However, there remains a challenge in identifying and inferring the causal SNPs from sequence data. A problem with different methods that predict the effect of mutations is that they produce false positives. In this hypothesis, we provide an overview of methods known for identifying causal variants and discuss the challenges, fallacies, and prospects in discerning candidate SNPs. We then propose a three-point classification strategy, which could be an additional annotation method in identifying causalities.

Original languageEnglish
Article numberS123604
JournalAdvances and Applications in Bioinformatics and Chemistry
Pages (from-to)57-64
Number of pages8
Publication statusPublished - 2017

    Research areas

  • Associations, Clinical mastitis, Diseases, GWAS, Linkage disequilibrium, Single-nucleotide polymorphisms, Variants

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