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

Carr Ian M. | Zendy; Johnson Colin A. | Zendy; Markham Alex F. | Zendy; Toomes Carmel | Zendy; Bonthron David T. | Zendy; Sheridan Eamonn G. | Zendy

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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.

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