Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis
Prashanth Suravajhala,1 Alfredo Benso2 1Department of Molecular Biology and Genetics, Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark; 2Department of Control and Computer Engineering, Politecnico di Torino, Torino, Italy Abstract: Next-generation sequencing...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2017-06-01
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| Series: | Advances and Applications in Bioinformatics and Chemistry |
| Subjects: | |
| Online Access: | https://www.dovepress.com/prioritizing-single-nucleotide-polymorphisms-and-variants-associated-w-peer-reviewed-article-AABC |
| _version_ | 1818504489434349568 |
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| author | Suravajhala P Benso A |
| author_facet | Suravajhala P Benso A |
| author_sort | Suravajhala P |
| collection | DOAJ |
| description | Prashanth Suravajhala,1 Alfredo Benso2 1Department of Molecular Biology and Genetics, Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark; 2Department of Control and Computer Engineering, Politecnico di Torino, Torino, Italy Abstract: 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. Keywords: clinical mastitis, single-nucleotide polymorphisms, variants, associations, diseases, linkage disequilibrium, GWAS |
| first_indexed | 2024-12-10T21:37:46Z |
| format | Article |
| id | doaj.art-21a996aa0e434343b12c1123febc68a8 |
| institution | Directory Open Access Journal |
| issn | 1178-6949 |
| language | English |
| last_indexed | 2024-12-10T21:37:46Z |
| publishDate | 2017-06-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Advances and Applications in Bioinformatics and Chemistry |
| spelling | doaj.art-21a996aa0e434343b12c1123febc68a82022-12-22T01:32:36ZengDove Medical PressAdvances and Applications in Bioinformatics and Chemistry1178-69492017-06-01Volume 10576433237Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitisSuravajhala PBenso APrashanth Suravajhala,1 Alfredo Benso2 1Department of Molecular Biology and Genetics, Center for Quantitative Genetics and Genomics, Aarhus University, Aarhus, Denmark; 2Department of Control and Computer Engineering, Politecnico di Torino, Torino, Italy Abstract: 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. Keywords: clinical mastitis, single-nucleotide polymorphisms, variants, associations, diseases, linkage disequilibrium, GWAShttps://www.dovepress.com/prioritizing-single-nucleotide-polymorphisms-and-variants-associated-w-peer-reviewed-article-AABCclinical mastitissingle nucleotide polymorphismsvariantsassociationsdiseases |
| spellingShingle | Suravajhala P Benso A Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis Advances and Applications in Bioinformatics and Chemistry clinical mastitis single nucleotide polymorphisms variants associations diseases |
| title | Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis |
| title_full | Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis |
| title_fullStr | Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis |
| title_full_unstemmed | Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis |
| title_short | Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis |
| title_sort | prioritizing single nucleotide polymorphisms and variants associated with clinical mastitis |
| topic | clinical mastitis single nucleotide polymorphisms variants associations diseases |
| url | https://www.dovepress.com/prioritizing-single-nucleotide-polymorphisms-and-variants-associated-w-peer-reviewed-article-AABC |
| work_keys_str_mv | AT suravajhalap prioritizingsinglenucleotidepolymorphismsandvariantsassociatedwithclinicalmastitis AT bensoa prioritizingsinglenucleotidepolymorphismsandvariantsassociatedwithclinicalmastitis |