Data-adaptive algorithms for calling alleles in repeat polymorphisms.
Data-adaptive algorithms are presented for separating overlapping signatures of heterozygotic allele pairs in electrophoresis data. Application is demonstrated for human microsatellite CA-repeat polymorphisms in LiCor 4000 and ABI 373 data. The algorithms allow overlapping alleles to be called correctly in almost every case where a trained observer could do so, and provide a fast automated objective alternative to human reading of the gels. The algorithm also supplies an indication of confidence level which can be used to flag marginal cases for verification by eye, or as input to later stages of statistical analysis.
Stoughton
R
R
Science Applications International Corporation, San Diego, CA 92121, USA. rbs@trg.saic.com
Bumgarner
R
R
Frederick
W J
WJ
McIndoe
R A
RA
D000465:Algorithms; D000483:Alleles; D000818:Animals; D001482:Base Composition; D004586:Electrophoresis; D006801:Humans; D008433:Mathematics; D051379:Mice; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid