Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies

ABSTRACT: 300,000 SNPs genotyped (Illumina CytoSNP12v2 array) in a family with unexplained inherited kidney disease. Analysed using parametric and Combinatorial Conflicting Homozygosity analysis, as described in Levine et al. BMC Genomics 2015. Abstract: Background: The ability to identify regions of the genome inherited with a dominant trait in one or more families has become increasingly valuable with the wide availability of next generationhigh throughput sequencing technology. While a number of methods exist for mapping of homozygous variants segregating with recessive traits in consanguineous families, dominant conditions are conventionally analysed by by linkage analysis, which requires computationally demanding haplotype reconstruction from marker genotypes and, even using advanced parallel

ORGANISM(S): Homo sapiens

SUBMITTER: Daniel Gale 

PROVIDER: E-GEOD-65312 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress