A BAC clone fingerprinting approach to the detection of human genome rearrangements

Genome Biol. 2007;8(10):R224. doi: 10.1186/gb-2007-8-10-r224.

Abstract

We present a method, called fingerprint profiling (FPP), that uses restriction digest fingerprints of bacterial artificial chromosome clones to detect and classify rearrangements in the human genome. The approach uses alignment of experimental fingerprint patterns to in silico digests of the sequence assembly and is capable of detecting micro-deletions (1-5 kb) and balanced rearrangements. Our method has compelling potential for use as a whole-genome method for the identification and characterization of human genome rearrangements.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Artificial, Bacterial*
  • Computer Simulation
  • DNA Fingerprinting / methods*
  • DNA Primers
  • DNA Restriction Enzymes
  • Gene Rearrangement / genetics*
  • Genome, Human / genetics*
  • Humans

Substances

  • DNA Primers
  • DNA Restriction Enzymes