DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families

• Published in: Human mutation Vol. 32; no. 12; pp. 1359 - 1366
• Main Authors: Carr, Ian M., Johnson, Colin A., Markham, Alex F., Toomes, Carmel, Bonthron, David T., Sheridan, Eamonn G.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.12.2011; Hindawi Limited
• Subjects: Adenomatous Polyposis Coli - genetics; Adult; Algorithms; Bioinformatics; Child; Chromosome Mapping - methods; Computational Biology - methods; Computer programs; Data processing; dominant gene mapping; Female; Gene mapping; Genes, APC; Genes, Dominant - genetics; Genetic Predisposition to Disease; Genotype; Genotyping; Human Genome Project; Humans; Male; microarray genotyping; Mutation; Nuclear Family; Oligonucleotide Array Sequence Analysis; Pedigree; Polymorphism, Single Nucleotide - genetics; Single-nucleotide polymorphism; SNP; Software; Tetraspanins - genetics; Time Factors
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1002/humu.21597

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. 32:1359–1366, 2011. ©2011 Wiley Periodicals, Inc.