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Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Human molecular genetics - 15 Sept 2014

Guerreiro Rita, Brás José, Hardy John, Singleton Andrew

Abstract excerpt

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...

Topics

Exome
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
High-Throughput Nucleotide Sequencing
Humans
Mutation
Nervous System Diseases
Phenotype
Sequence Analysis, DNA

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PMID: 24794858
DOI: 10.1093/hmg/ddu203
PMCID: PMC4170717

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