Literature DB >> 23756898

Detecting regions of homozygosity to map the cause of recessively inherited disease.

James W Kijas1.   

Abstract

Homozygosity is a component of genetic patterning that can be used to search for the cause of genetic disease. In this chapter, methods are presented to analyze SNP data for the presence of homozygosity. Two exercises demonstrate methods to define runs of homozygosity, to identify shared homozygosity between individuals, and to evaluate the results in light of the expectations of a recessively inherited genetic disorder. An example dataset is used to aid in data interpretation.

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Year:  2013        PMID： 23756898     DOI： 10.1007/978-1-62703-447-0_14

Source DB:  PubMed          Journal:  Methods Mol Biol        ISSN： 1064-3745


  6 in total

1.  Runs of homozygosity and inbreeding in thyroid cancer.

Authors:  Hauke Thomsen; Bowang Chen; Gisella Figlioli; Rossella Elisei; Cristina Romei; Monica Cipollini; Alfonso Cristaudo; Franco Bambi; Per Hoffmann; Stefan Herms; Stefano Landi; Kari Hemminki; Federica Gemignani; Asta Försti
Journal:  BMC Cancer       Date:  2016-03-16       Impact factor: 4.430

2.  Genetic diversity and signatures of selection in various goat breeds revealed by genome-wide SNP markers.

Authors:  Luiz F Brito; James W Kijas; Ricardo V Ventura; Mehdi Sargolzaei; Laercio R Porto-Neto; Angela Cánovas; Zeny Feng; Mohsen Jafarikia; Flávio S Schenkel
Journal:  BMC Genomics       Date:  2017-03-14       Impact factor: 3.969

3.  Runs of homozygosity associate with decreased risks of lung cancer in never-smoking East Asian females.

Authors:  Yi-Xiao Chen; Yan Guo; Shan-Shan Dong; Xiao-Feng Chen; Jia-Bin Chen; Yu-Jie Zhang; Shi Yao; Hlaing Nwe Thynn; Liqiang Zhi; Tie-Lin Yang
Journal:  J Cancer       Date:  2018-10-05       Impact factor: 4.207

4.  Investigation of Genetic Susceptibility to Blastomycosis Reveals Interleukin-6 as a Potential Susceptibility Locus.

Authors:  Richard M Merkhofer; Mary B O'Neill; Caitlin S Pepperell; Bruce S Klein; Donny Xiong; Nydiaris Hernandez-Santos; Hannah Dobson; J Scott Fites; Abigail C Shockey; Marcel Wuethrich
Journal:  mBio       Date:  2019-06-18       Impact factor: 7.867

5.  Evidence of Inbreeding in Hodgkin Lymphoma.

Authors:  Hauke Thomsen; Miguel Inacio da Silva Filho; Michael Fuchs; Sabine Ponader; Elke Pogge von Strandmann; Lewin Eisele; Stefan Herms; Per Hoffmann; Andreas Engert; Kari Hemminki; Asta Försti
Journal:  PLoS One       Date:  2016-04-28       Impact factor: 3.240

6.  Comparative Analysis of Genome Diversity in Bullmastiff Dogs.

Authors:  Sally-Anne Mortlock; Mehar S Khatkar; Peter Williamson
Journal:  PLoS One       Date:  2016-01-29       Impact factor: 3.240
  6 in total

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