期刊
HUMAN MOLECULAR GENETICS
卷 23, 期 -, 页码 R47-R53出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu203
关键词
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资金
- Alzheimer's Research UK
- Wellcome Trust/MRC Joint Call in Neurodegeneration award [WT089698]
- Wellcome Trust/MRC
- MRC [MC_G1000735] Funding Source: UKRI
- Alzheimers Research UK [ARUK-TRFUS2012-3] Funding Source: researchfish
- Medical Research Council [MC_G1000735] Funding Source: researchfish
- Parkinson's UK [G-1107] Funding Source: researchfish
The development of next-generation sequencing technologies has allowed for the identification of several new genes and genetic factors in human genetics. Common results from the application of these technologies have revealed unexpected presentations for mutations in known disease genes. In this review, we summarize the major contributions of exome sequencing to the study of neurodegenerative disorders and other neurological conditions and discuss the interface between Mendelian and complex neurological diseases with a particular focus on pleiotropic events.
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