A single nucleotide polymorphism, or SNP, is a single base-pair difference in the DNA sequence of individual members of a species; not necessarily a pathological mutation, but commonly studied as ...
Only a subset of single-nucleotide polymorphisms (SNPs) can be genotyped in genome-wide association studies. Imputation methods can infer the alleles of 'hidden' variants and use those inferences ...
To avoid confusion, single nucleotide polymorphisms (SNPs) are not usually referred to as mutations, which is a term generally reserved for p53 sequence changes that arise during tumorigenesis or ...
SNP = single nucleotide polymorphism; TP53I3 = tumour protein p53 inducible protein 3. p53 lies at the hub of a vast signalling network. Polymorphisms in upstream activators, repressors or ...
Epigenome-wide association studies in neurodevelopmental disorders Takeo Kubota, Kunio Miyake and Takae Hirasawa Part III. Single Nucleotide Polymorphisms, Copy Number Variants, Haplotypes and eQTLs: ...