Definition and Clinical Importance of Haplotypes
- 1 February 2005
- journal article
- review article
- Published by Annual Reviews in Annual Review of Medicine
- Vol. 56 (1), 303-320
- https://doi.org/10.1146/annurev.med.56.082103.104540
Abstract
Advances in genotyping and sequencing technologies, coupled with the development of sophisticated statistical methods, have afforded investigators novel opportunities to define the role of sequence variation in the development of common human diseases. At the forefront of these investigations is the use of dense maps of single-nucleotide polymorphisms (SNPs) and the haplotypes derived from these polymorphisms. Here we review basic concepts of high-density genetic maps of SNPs and haplotypes and how they are typically generated and used in human genetic research. We also provide useful examples and tools available for researchers interested in incorporating haplotypes into their studies. Finally, we discuss the latest concepts for the analysis of haplotypes related to human disease, including haplotype blocks, the International HapMap Project, and the future directions of these resources.Keywords
This publication has 102 references indexed in Scilit:
- Mapping complex disease loci in whole-genome association studiesNature, 2004
- The effects of scale: variation in the APOA1/C3/A4/A5 gene clusterHuman Genetics, 2004
- The International HapMap ProjectNature, 2003
- Genomic profiling to promote a healthy lifestyle: not ready for prime timeNature Genetics, 2003
- A vision for the future of genomics researchNature, 2003
- Effectiveness of computational methods in haplotype predictionHuman Genetics, 2001
- Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variationJournal of Molecular Biology, 2001
- A map of human genome sequence variation containing 1.42 million single nucleotide polymorphismsNature, 2001
- Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequencesNature Genetics, 2000
- Hematologically and Genetically Distinct Forms of Sickle Cell Anemia in AfricaNew England Journal of Medicine, 1985