Physical mapping: integrating computational and molecular genetic data

S Le Hellard, Colin Semple, S W Morris, D J Porteous, Kathryn Evans

Research output: Contribution to journalArticlepeer-review

Abstract

A crucial step beyond the identification of genetic linkage of a disease to a chromosomal region is the production of a physical map that will allow the identification of candidate genes. Although the process of physical map building has been facilitated by the flow of data released by the Human Genome Project, gathering all the information together requires significant effort. In a previous study, we reported linkage between Bipolar Affective Disorder and the chromosomal location 4p15.3--p16.1. In this review we use this example to describe how to collect publicly available sequence, DNA fingerprint, and genetic marker data and integrate these with empirical data to build a large scale high resolution physical map of a region. Methods used to identify new genetic markers and candidate genes within a circumscribed region are also presented.
Original languageEnglish
Pages (from-to)221-8
Number of pages8
JournalAnnals of human genetics
Volume65
Issue numberPt 3
DOIs
Publication statusPublished - 2001

Keywords

  • Databases, Factual
  • Expressed Sequence Tags
  • Genetic Linkage
  • Genetic Markers
  • Genome, Human
  • Humans
  • Physical Chromosome Mapping
  • Software

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