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The Promise that Haplotypes Hold

Sifting through the 3 billion letters of DNA that comprise the human genome to find disease-associated sequences is at best a daunting task. But recent evidence suggests that this genome is organized into highly structured blocks called haplotypes, highly conserved packages that contain SNPs (single nucleotide polymorphisms) and exhibit very little genotypic variation. Enlisting these haplotypes in the search may make this undertaking easier than previously thought. Evidence of such organizati

Written byLeslie Pray
| 6 min read

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Evidence of such organization has been building over the past several years, says scientist Mark Daly, Whitehead Institute Center for Genome Research, Cambridge, Mass. But a slew of papers in last month's Nature Genetics are the first attempt to bring the data together.1-5 If the evidence is proven, scientists plan to use these haplotypes to locate disease genes, a more concise process than wading through the entire genome.

Courtesy of Whitehead Institute

John Rioux

Single base pair differences form most human genetic variations and have been found on all 23 human chromosomes. So far, scientists have mapped more than 1.4 million of them on the human genome. But "SNPs don't genetically travel on their own," says geneticist John Rioux, Daly's co-author on two of the Nature Genetics papers.1,2 "They travel in packs," explains David Altshuler, also at the Whitehead Institute and a Harvard Medical School professor.

These packs, known as ...

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