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.
Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis / Suravajhala, Prashanth; Benso, Alfredo. - In: ADVANCES AND APPLICATIONS IN BIOINFORMATICS AND CHEMISTRY. - ISSN 1178-6949. - Volume 10:(2017), pp. 57-64. [10.2147/AABC.S123604]
Prioritizing single-nucleotide polymorphisms and variants associated with clinical mastitis
BENSO, ALFREDO
2017
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.File | Dimensione | Formato | |
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f_AABC-123604-prioritizing-snps-and-variants-associated-with-clinical-mast_061217_36899.pdf
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https://hdl.handle.net/11583/2674592
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