A combined linkage-physical map of the human genome

Am J Hum Genet. 2004 Dec;75(6):1143-8. doi: 10.1086/426405. Epub 2004 Oct 14.


We have constructed de novo a high-resolution genetic map that includes the largest set, to our knowledge, of polymorphic markers (N=14,759) for which genotype data are publicly available; that combines genotype data from both the Centre d'Etude du Polymorphisme Humain (CEPH) and deCODE pedigrees; that incorporates single-nucleotide polymorphisms; and that also incorporates sequence-based positional information. The position of all markers on our map is corroborated by both genomic sequence and recombination-based data. This specific combination of features maximizes marker inclusion, coverage, and resolution, making this map uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping*
  • Databases, Genetic*
  • Genetic Markers / genetics
  • Genome, Human*
  • Humans
  • Physical Chromosome Mapping*
  • Polymorphism, Genetic*


  • Genetic Markers