Genetic analysis in neurology: The next 10 years

JAMA Neurology

Volumn 70, Issue 6, 2013, Pages 696-702

  Pittman, Alan ^a   Hardy, John ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DNA; REPETITIVE DNA; RNA;

AMINO ACID SEQUENCE; DNA SEQUENCE; DNA TEMPLATE; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN GENOME; NEUROLOGY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REVIEW; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84878813302     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.2068     Document Type: Review

References (29)

1. Ecker JR, Bickmore WA, Barroso I, Pritchard JK, Gilad Y, Segal E. Genomics: ENCODE explained. Nature. 2012;489(7414):52-55.
2. Farnham PJ. Thematic minireview series on results from the ENCODE project: integrative global analyses of regulatory regions in the human genome. J Biol Chem. 2012;287(37):30885-30887.
3. International HapMap Consortium. The International HapMap Project. Nature. 2003;426(6968):789-796.
4. Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature. 2009;458(7239):719-724.
5. Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet. 2010;11(1):31-46.
6. Loman NJ, Misra RV, Dallman TJ, et al. Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol. 2012;30(5):434-439.
7. Abecasis GR, Altshuler D, Auton A, et al; 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing [published correction appears in Nature. 2011;473(7348):544]. Nature. 2010;467(7319):1061-1073.
8. Buchanan CC, Torstenson ES, Bush WS, Ritchie MD. A comparison of cataloged variation between International HapMap Consortium and 1000 Genomes Project data. J Am Med Inform Assoc. 2012;19(2):289-294.
9. Flicek P, Birney E. Sense from sequence reads: methods for alignment and assembly. Nat Methods. 2009;6(11 suppl):S6-S12.
10. Thomas B, Beal MF. Parkinson's disease. HumMol Genet. 2007;16(R2):R183-R194.
11. Klein C, Westenberger A. Genetics of Parkinson's disease. Cold Spring Harb Perspect Med. 2012;2(1):a008888.
12. Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomaldominant parkinsonism with pleomorphic pathology. Neuron. 2004;44(4):601-607. (Pubitemid 39531225)
13. Paisán-Ruíz C, Jain S, Evans EW, et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004;44(4):595-600. (Pubitemid 39531224)
14. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 1998;392(6676):605-608. (Pubitemid 28207717)
15. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299(5604):256-259. (Pubitemid 36131051)
16. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science. 2004;304(5674):1158- 1160. (Pubitemid 38661852)
17. Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997;276(5321):2045-2047. (Pubitemid 27443610)
18. Singleton AB, FarrerM, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science. 2003;302(5646):841. (Pubitemid 37339619)
19. Zimprich A, Benet-Pagès A, Struhal W, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet. 2011;89(1):168-175.
20. Vilariño-Güell C, Wider C, Ross OA, et al. VPS35 mutations in Parkinson disease. Am J Hum Genet. 2011;89(1):162-167.
21. Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet. 2011;89(3):398-406.
22. Do CB, Tung JY, Dorfman E, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011;7(6):e1002141.
23. Simón-Sánchez J, Schulte C, Bras JM, et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet. 2009;41(12):1308-1312.
24. Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361(17):1651-1661.
25. Lill CM, Bertram L. Towards unveiling the genetics of neurodegenerative diseases. Semin Neurol. 2011;31(5):531-541.
26. Hernandez DG, Nalls MA, Moore M, et al. Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012;47(1):20-28.
27. Trabzuni D, Ryten M, Walker R, et al. Quality control parameters on a large dataset of regionally dissected human control brains for whole genome expression studies. J Neurochem. 2011;119(2):275-282.
28. Trabzuni D, Wray S, Vandrovcova J, et al. MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet. 2012;21(18):4094-4103.
29. Gahl WA, Markello TC, Toro C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Gen Med. 2012;14(1):51-59.