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

Overview of attention for article published in BMC Genomics, March 2015
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Title
Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies
Published in
BMC Genomics, March 2015
DOI 10.1186/s12864-015-1360-4
Pubmed ID
Authors

Adam P Levine, Thomas M F Connor, D Deren Oygar, Guy H Neild, Anthony W Segal, Patrick H Maxwell, Daniel P Gale

Abstract

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 high 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 linkage analysis, which requires computationally demanding haplotype reconstruction from marker genotypes and, even using advanced parallel approximation implementations, can take substantial time, particularly for large pedigrees. In addition, linkage analysis lacks sensitivity in the presence of phenocopies (individuals sharing the trait but not the genetic variant responsible). Combinatorial Conflicting Homozygosity (CCH) analysis uses high density biallelic single nucleotide polymorphism (SNP) marker genotypes to identify genetic loci within which consecutive markers are not homozygous for different alleles. This allows inference of identical by descent (IBD) inheritance of a haplotype among a set or subsets of related or unrelated individuals.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Canada 1 6%
Unknown 17 94%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 22%
Other 2 11%
Professor 2 11%
Researcher 2 11%
Student > Master 1 6%
Other 1 6%
Unknown 6 33%
Readers by discipline Count As %
Medicine and Dentistry 5 28%
Biochemistry, Genetics and Molecular Biology 3 17%
Immunology and Microbiology 2 11%
Psychology 2 11%
Unknown 6 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 August 2015.
All research outputs
#18,345,702
of 23,577,761 outputs
Outputs from BMC Genomics
#7,740
of 10,800 outputs
Outputs of similar age
#178,498
of 260,371 outputs
Outputs of similar age from BMC Genomics
#218
of 291 outputs
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