Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing

Current Neurology and Neuroscience Reports

Volumn 15, Issue 9, 2015, Pages

  Warman Chardon, Jodi ^a,b,c   Beaulieu, Chandree ^b   Hartley, Taila ^b   Boycott, Kym M ^b   Dyment, David A ^b  

^a UNIVERSITY OF OTTAWA   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

Genetic heterogeneity; Molecular diagnosis; Next generation sequencing; Rare diseases; Whole exome sequencing

Indexed keywords

BIOINFORMATICS; CLINICAL FEATURE; DISEASE SEVERITY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR DIAGNOSIS; NEUROLOGIC DISEASE; NEXT GENERATION SEQUENCING; RARE DISEASE; REVIEW; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; ANIMAL; AXON; EXON; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING;

ANIMALS; AXONS; EXONS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; NERVOUS SYSTEM DISEASES;

EID: 84939643094     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-015-0584-7     Document Type: Review

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