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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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Assessing the signatures of selection in PRNP from polymorphism data: results support Kreitman and Di Rienzo's

Marta Soldevila, Francesc Calafell, Agnar Helgason

    Trends in Genetics : TIG
    |May 26, 2005
    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,...