Using genetic variation to study human disease

James G. Taylor, Eun Hwa Choi, Charles B. Foster, Stephen J. Chanock

Research output: Contribution to journalReview articlepeer-review

110 Scopus citations


The generation of a draft sequence of the human genome has spawned a unique opportunity to investigate the role of genetic variation in human diseases. The difference between any two human genomes has been estimated to be less than 0.1% overall, but still, this means that there are at least several million nucleotide differences per individual. The study of single nucleotide polymorphisms (SNPs), the most common type of variant, is likely to contribute substantially to deciphering genetic determinants of common and rare diseases. The effort to identify SNPs has been accelerated by three developments: the availability of sequence data from the genome project, improved informatic tools for searching the former and high-throughput genotype platforms. With these new tools in hand, dissecting the genetics of disease will rapidly move forward, although a number of formidable challenges will have to be met to see its promise realized in clinical medicine.

Original languageEnglish (US)
Pages (from-to)507-512
Number of pages6
JournalTrends in Molecular Medicine
Issue number11
StatePublished - Nov 12 2001

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology


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