Exome sequencing: How to understand it

Practical Neurology

Volumn 13, Issue 6, 2013, Pages 399-407

  Keogh, M J ^a,b   Daud, D ^c   Chinnery, P F ^b  

^a JAMES COOK UNIVERSITY HOSPITAL   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EXOME; FEMALE; GENETIC SCREENING; GENETICS; HUMAN; MALE; METHODOLOGY; NEUROGENETICS; NOTE; PEDIGREE;

GENETICS; NEUROGENETICS;

EXOME; FEMALE; GENETIC TESTING; HUMANS; MALE; PEDIGREE;

EID: 84887540012     PISSN: 14747758     EISSN: 14747766     Source Type: Journal    
DOI: 10.1136/practneurol-2012-000498     Document Type: Note

References (26)

1. Sachidanandam R, Weissman D, Schmidt SC, et al. A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms. Nature 2001;409:928-933.
2. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
3. McPherson JD, Marra M, Hillier L, et al. A physical map of the human genome. Nature 2001;409:934-941.
4. Bamshad MJ, Ng SB, Bigham AW, et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011;12:745-755.
5. Cooper DN, Krawczak M, Antonorakis SE. The nature and mechanisms of human gene mutation. In: Scriver C, Beaudet al, Sly WS, Valle Deds. The metabolic and molecular bases of inherited disease.7th edn. New York: McGraw-Hill, 1995:259-291.
6. Exome Variant Server Seattle, WA2012 [cited 2012]. http://evs.gs.washington.edu/EVS/
7. The 1000 Geomes Project 2012 [Sept 15th 2012]. http://www.1000genomes.org
8. Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012;135(Pt 6):1695-1713.
9. Wold B, Myers RM. Sequence census methods for functional genomics. Nat Methods 2008;5:19-21.
10. Horvath R, Holinski-Feder E, Neeve VC, et al. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord 2012;27:789-793.
11. Conrad DF, Keebler JE, DePristo MA, et al. Variation in genome-wide mutation rates within and between human families. Nat Genet 2011;43:712-714.
12. Lynch M. Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci USA 2010;107:961-968.
13. Pyle A, Griffin H, Yu-Wai-Man P, et al. Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. Arch Neurol 2012:1-4.
14. Epi4K Consortium. Epi4K: gene discovery in 4,000 genomes. Epilepsia 2012;53:1457-1467.
15. Pottier C, Hannequin D, Coutant S, et al. High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012;17:875-879.
16. Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011;72:257-268.
17. DeJesus-Hernandez M, Mackenzie IR, Boeve BF, et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011;72:245-256.
18. Traynor BJ. Road to the chromosome 9p-linked ALS/FTD locus. J Neurol Neurosurg Psychiatry 2012; 83:356-357.
19. Kannu P, Nour M, Irving M, et al. Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutation. Clin Genet 2013;83:191-194.
20. Wan J, Carr JR, Baloh RW, et al. Nonconsensus intronic mutations cause episodic ataxia. Ann Neurol 2005;57: 131-135.
21. Ezquerra M, Campdelacreu J, Munoz E, et al. A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome. Arch Neurol 2005;62:306-308.
22. Todd PK, Paulson HL. RNA-mediated neurodegeneration in repeat expansion disorders. Ann Neurol 2010;67: 291-300.
23. Firth HV, Richards SM, Bevan AP, et al. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 2009;84:524-533.
24. Deciphering Developmental Disorders 2012. http://www.ddduk.org
25. Wolf SM, Lawrenz FP, Nelson CA, et al. Managing incidental findings in human subjects research: analysis and recommendations. J Law Med Ethics 2008;36:219-248.
26. Kohane IS, Masys DR, Altman RB. The incidentalome: a threat to genomic medicine. JAMA 2006;296:212-215.