Next-generation sequencing for mitochondrial disorders
Author:
Affiliation:
1. Research Programs Unit; Molecular Neurology; Biomedicum-Helsinki; University of Helsinki; Helsinki Finland
Publisher
Wiley
Subject
Pharmacology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bph.12469/fullpdf
Reference134 articles.
1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012
2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010
3. Low ‘penetrance’ of phylogenetic knowledge in mitochondrial disease studies;Bandelt;Biochem Biophys Res Commun,2005
4. Extensive feature detection of N-terminal protein sorting signals;Bannai;Bioinformatics,2002
5. Carrier testing for severe childhood recessive diseases by next-generation sequencing;Bell;Sci Transl Med,2011
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