Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Open Access

Peer-reviewed

Research Article

Kinga M. Bujakowska,

Affiliation Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America
⨯
Joseph White,

Affiliation Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America
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Emily Place,

Affiliation Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America
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Mark Consugar,

Affiliation Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America
⨯
Jason Comander

* E-mail: Jason_comander@meei.harvard.edu

Affiliation Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America
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Alu elements
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Insertion mutation
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Next-generation sequencing
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Heterozygosity
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Homozygosity
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Polymerase chain reaction
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Retinitis pigmentosa
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Computational pipelines
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