Digenic inheritance and Mendelian disease

Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.

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Bibliographic Details
Published inNature genetics Vol. 44; no. 12; pp. 1291 - 1292
Main Author Lupski, James R
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.12.2012
Nature Publishing Group
Subjects
631/208/2489/144
692/699/1670/1669
Agriculture
Animal Genetics and Genomics
Biomedicine
Cancer Research
Disease
Epigenesis, Genetic
Gene Function
Genes
Genetic Diseases, Inborn - genetics
Genetics
Human Genetics
Humans
Muscular Dystrophy, Facioscapulohumeral - genetics
Mutation
news-and-views
Online AccessGet full text
ISSN1061-4036
1546-1718
1546-1718
DOI10.1038/ng.2479

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Summary:Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.2479