A haplotype is a physical grouping of genomic variants (or polymorphisms) that tend to be inherited together. A specific haplotype typically reflects a unique combination of variants that reside near each other on a chromosome.
Haplotype. A haplotype refers to a set of DNA variants along a single chromosome that tend to be inherited together. They tend to be inherited together because they are close to each other on the chromosome, and recombinations between these variants are rare. A haplotype can be limited to a single gene or it can be larger and include multiple genes.
Leslie G. Biesecker, M.D.
Director & NIH Distinguished Investigator
Center for Precision Health Research