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Exome sequencing in Parkinson's disease
Author(s) -
Bras JM,
Singleton AB
Publication year - 2011
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01722.x
Subject(s) - exome sequencing , exome , mendelian inheritance , disease , genetics , genomics , biology , dna sequencing , computational biology , parkinson's disease , bioinformatics , mutation , medicine , gene , genome , pathology
Bras JM, Singleton AB. Exome sequencing in Parkinson's disease. Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive. In this review, we discuss not only how we envisage exome sequencing being applied to a complex disease, such as Parkinson's disease, but also what are the known caveats of this approach.