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DominantMapper: Rule‐based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families
Author(s) -
Carr Ian M.,
Johnson Colin A.,
Markham Alex F.,
Toomes Carmel,
Bonthron David T.,
Sheridan Eamonn G.
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21597
Subject(s) - biology , genetics , snp , computational biology , snp array , single nucleotide polymorphism , genotype , gene
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.