title: DominantMapper: rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.
abstract: With the advent of cheap rapid methods for whole-genome SNP genotyping and the completion of the Human Genome Project, mapping disease loci has become primarily a bioinformatic rather than a laboratory problem. Here, we describe DominantMapper, a computer program that implements a rule-based analysis algorithm for the detection of dominant disease loci in either a small number of nuclear families or a single large nuclear family. To demonstrate its utility, we present the successful analysis of two pedigrees in which the affected individuals carry either APC or TSPAN12 mutations.
authors: Leeds Institute of Molecular Medicine, University of Leeds, UK. i.m.carr@leeds.ac.uk
authors: Ian M
authors: IM
authors: Carr
authors: Colin A
authors: CA
authors: Johnson
authors: Alex F
authors: AF
authors: Markham
authors: Carmel
authors: C
authors: Toomes
authors: David T
authors: DT
authors: Bonthron
authors: Eamonn G
authors: EG
authors: Sheridan
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D000465:Algorithms; D002648:Child; D002874:Chromosome Mapping / Q000379:methods*; D019295:Computational Biology / Q000379:methods; D005260:Female; D017491:Genes, APC; D005799:Genes, Dominant / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009679:Nuclear Family; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012984:Software; D059470:Tetraspanins / Q000235:genetics; D013997:Time Factors
chemical_list: C545100:TSPAN12 protein, human; D059470:Tetraspanins