Evidence map›Paper›PMID 23469237›Full record

ArticlePloS one2013

cgaTOH: extended approach for identifying tracts of homozygosity.

Li Zhang, Mohammed S Orloff, Sean Reber, Shengchao Li, Ye Zhao, Charis Eng

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Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

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16citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

Who cites it

16 citing papers in PubMed.

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  4. Population structure, inbreeding and admixture in local cattle populations managed by community-based breeding programs in Burkina Faso.Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie · 2021
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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Li ZhangDepartment of Quantitative Health Sciences, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America. zhangl3@ccf.org
Mohammed S Orloff
Sean Reber
Shengchao Li
Ye Zhao
Charis Eng

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Identification of disease variants via homozygosity mapping and investigation of the effects of genome-wide homozygosity regions on traits of biomedical importance have been widely applied recently. Nonetheless, the existing methods and algorithms to identify long tracts of homozygosity (TOH) are not able to provide efficient and rigorous regions for further downstream association investigation. We expanded current methods to identify TOHs by defining "surrogate-TOH", a region covering a cluster of TOHs with specific characteristics. Our defined surrogate-TOH includes cTOH, viz a common TOH region where at least ten TOHs present; gTOH, whereby a group of highly overlapping TOHs share proximal boundaries; and aTOH, which are allelically-matched TOHs. Searching for gTOH and aTOH was based on a repeated binary spectral clustering algorithm, where a hierarchy of clusters is created and represented by a TOH cluster tree. Based on the proposed method of identifying different species of surrogate-TOH, our cgaTOH software was developed. The software provides an intuitive and interactive visualization tool for better investigation of the high-throughput output with special interactive navigation rings, which will find its applicability in both conventional association studies and more sophisticated downstream analyses. NCBI genome map viewer is incorporated into the system. Moreover, we discuss the choice of implementing appropriate empirical ranges of critical parameters by applying to disease models. This method identifies various patterned clusters of SNPs demonstrating extended homozygosity, thus one can observe different aspects of the multi-faceted characteristics of TOHs.

Indexed as

Genetic Predisposition to DiseaseHomozygotePolymorphism, Single NucleotideSoftwareAlgorithmsChromosome MappingCluster AnalysisDatabases, GeneticGenome, HumanHumansLung NeoplasmsModels, Genetic

Identifiers

PMID23469237
PMCPMC3585782

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.