The map problem: a comparison of genetic and sequence-based physical maps

Am J Hum Genet. 2002 Jan;70(1):101-7. doi: 10.1086/324774. Epub 2001 Nov 9.

Abstract

The genetic order of autosomal genome-scan markers from Marshfield panels 9 and 10 were compared with their physical order, on the basis of the assembled nonredundant human genome sequence from the Human Genome Project-Santa Cruz (HGP-sc; October 2000 and April 2001 releases) and Celera (CEL; February 2001 release) databases. The genetic order of 96% of the markers on the Marshfield map for panel 10 is supported by a likelihood ratio of > or = 3 (odds ratio of 1,000:1). Inconsistencies with the genetic panel 10 map were found for 5% and 2% of the markers in the CEL and HGP-sc sequences, respectively. These inconsistencies consisted of both positional and chromosomal-assignment disagreements. For the majority of these inconsistent markers, the genetic order was supported by a likelihood ratio of > or = 3, and the physical order in the other assembly matched the genetic order. The majority of the inconsistencies between the physical- and genetic-map order point to errors in the physical-map order. A Web site is made available that displays inconsistencies for genetic markers from Marshfield panels 9 and 10 between their genetic-map positions and sequence-based physical-map positions, as well as inconsistencies between their sequence-based physical position. This Web site also contains genetic-map distances, physical-map positions from the Celera and Human Genome Project sequence, and likelihood-ratio support for the genetic maps.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping*
  • Chromosomes, Human / genetics*
  • Chromosomes, Human, Pair 1 / genetics
  • Databases, Nucleic Acid
  • Gene Order / genetics*
  • Genetic Linkage / genetics*
  • Genetic Markers / genetics
  • Human Genome Project
  • Humans
  • Internet
  • Likelihood Functions
  • Odds Ratio
  • Physical Chromosome Mapping*
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • Genetic Markers