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In-silico evaluation based on public data: In search of forensically efficient tri- and tetrallelic X-SNPs

Endika Prieto-Fernández1, Tamara Kleinbielen1, Miriam Baeta1

  • 1BIOMICs Research Group, Lascaray Research Center, University of the Basque Country UPV/EHU, Avda. Miguel de Unamuno, 3, 01006 Vitoria-Gasteiz, Spain.

Forensic Science International. Genetics
|November 23, 2017
PubMed
Abstract

No abstract available in PubMed .

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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