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SNP FAQ Archive [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2005-.

  • This publication is provided for historical reference only and the information may be out of date.

This publication is provided for historical reference only and the information may be out of date.

Information about Haplotypes

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If your question is “What is the definition of haplotyopes in terms of SNPs?” here is the answer:

The word "Haplotype" has two definitions. The first definition is the one most people think of —a haplotype is the genetic constitution of an individual chromosome (in diploid species); one member of a pair of alleles for each loci.

When haplotypes are defined with relation to SNPs, the definition changes: a haplotype is a set of SNPs found to be statistically associated on a single chromatid. That is, adjacent SNPs that are inherited together on the basis of linkage disequilibrium. A good site to go to for a more detailed definition is the International HapMap Project (11/13/06)

What is a Haplotig?

A Haplotig is a "contig of clones with the same haplotype". You can find the original reference to this word in Genome Biology 2007, 8:R114, which is available online. (7/13/07)

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