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

| 6 min read

Register for free to listen to this article
Listen with Speechify
0:00
6:00
Share

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 ...

Interested in reading more?

Become a Member of

The Scientist Logo
Receive full access to digital editions of The Scientist, as well as TS Digest, feature stories, more than 35 years of archives, and much more!
Already a member? Login Here

Meet the Author

  • Leslie Pray

    This person does not yet have a bio.

Published In

Share
May digest 2025 cover
May 2025, Issue 1

Study Confirms Safety of Genetically Modified T Cells

A long-term study of nearly 800 patients demonstrated a strong safety profile for T cells engineered with viral vectors.

View this Issue
iStock

TaqMan Probe & Assays: Unveil What's Possible Together

Thermo Fisher Logo
Meet Aunty and Tackle Protein Stability Questions in Research and Development

Meet Aunty and Tackle Protein Stability Questions in Research and Development

Unchained Labs
Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Detecting Residual Cell Line-Derived DNA with Droplet Digital PCR

Bio-Rad
How technology makes PCR instruments easier to use.

Making Real-Time PCR More Straightforward

Thermo Fisher Logo

Products

The Scientist Placeholder Image

Biotium Launches New Phalloidin Conjugates with Extended F-actin Staining Stability for Greater Imaging Flexibility

Leica Microsystems Logo

Latest AI software simplifies image analysis and speeds up insights for scientists

BioSkryb Genomics Logo

BioSkryb Genomics and Tecan introduce a single-cell multiomics workflow for sequencing-ready libraries in under ten hours

iStock

Agilent BioTek Cytation C10 Confocal Imaging Reader

agilent technologies logo