Exome sequencing: A transient technology for molecular diagnostics?

Expert Review of Molecular Diagnostics

Volumn 12, Issue 3, 2012, Pages 211-214

  Ku, Chee Seng ^a   Cooper, David N ^b  

^a NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

diagnostics; exome sequencing; Mendelian disorders; next generation sequencing; personalized genomic medicine

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2;

AUTOSOMAL RECESSIVE DISORDER; EDITORIAL; ENTERITIS; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOTE; HUMAN; MOLECULAR DIAGNOSIS; PERSONALIZED MEDICINE; PHENOTYPE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; STEM CELL TRANSPLANTATION; WHOLE EXOME SEQUENCING; X CHROMOSOME; X LINKED MENTAL RETARDATION;

CHROMOSOME MAPPING; EXOME; GENETIC TESTING; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INDIVIDUALIZED MEDICINE; MOLECULAR DIAGNOSTIC TECHNIQUES; SEQUENCE ANALYSIS, DNA;

EID: 84859407381     PISSN: 14737159     EISSN: 17448352     Source Type: Journal    
DOI: 10.1586/erm.12.3     Document Type: Editorial

References (27)

1. Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Hum. Mol. Genet. 19(R2), R119-R124 (2010).
2. Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol. 12(9), 228 (2011).
3. Bamshad MJ, Ng SB, Bigham AW et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12(11), 745-755 (2011).
4. Clark MJ, Chen R, Lam HY et al. Performance comparison of exome DNA sequencing technologies. Nat. Biotechnol. 29(10), 908-914 (2011).
5. Choi M, Scholl UI, Ji W et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA 106(45), 19096-19101 (2009).
6. Majewski J, Wang Z, Lopez I et al. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. J. Med. Genet. 48(9), 593-596 (2011).
7. Cullinane AR, Vilboux T, O'Brien K et al. Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia. J. Invest. Dermatol. 131(10), 2017-2025 (2011).
8. Worthey EA, Mayer AN, Syverson GD et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13(3), 255-262 (2011).
9. Montenegro G, Powell E, Huang J et al. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann. Neurol. 69(3), 464-470 (2011).
10. Walker RH, Schulz VP, Tikhonova IR et al. Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing. Mov. Disord. doi:10.1002/mds.24020 (2011) (Epub ahead of print).
11. Jones MA, Bhide S, Chin E et al. Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet. Med. 13(11), 921-932 (2011).
12. Meder B, Haas J, Keller A et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ. Cardiovasc. Genet. 4(2), 110-122 (2011).
13. Koboldt DC, Ding L, Mardis ER, Wilson RK. Challenges of sequencing human genomes. Brief Bioinform. 11(5), 484-498 (2010).
14. Kingsmore SF, Dinwiddie DL, Miller NA, Soden SE, Saunders CJ. Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. Expert Rev. Mol. Diagn. 11(8), 855-868 (2011).
15. Berg JS, Khoury MJ, Evans JP. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genet. Med. 13(6), 499-504 (2011).
16. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology 138(6), 2044-2058 (2010).
17. Tarpey PS, Smith R, Pleasance E et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet. 41(5), 535-543 (2009).
18. Walsh T, Lee MK, Casadei S et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc. Natl Acad. Sci. USA 107(28), 12629-12633 (2010).
19. Lim BC, Lee S, Shin JY et al. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J. Med. Genet. 48(11), 731-736 (2011).
20. Karakoc E, Alkan C, O'Roak BJ et al. Detection of structural variants and indels within exome data. Nat. Methods. 9(2), 176-178 (2011).
21. Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci. Transl. Med. 3(87), 87ps23 (2011).
22. Vissers LE, de Vries BB, Veltman JA. Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. J. Med. Genet. 47(5), 289-297 (2010).
23. Welch JS, Westervelt P, Ding L et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 305(15), 1577-1584 (2011).
24. Cooper DN, Chen JM, Ball EV et al. Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum. Mutat. 31(6), 631-655 (2010).
25. Chan IS, Ginsburg GS. Personalized medicine: progress and promise. Annu. Rev. Genomics Hum. Genet. 12, 217-244 (2011).
26. Jostins L, Barrett JC. Genetic risk prediction in complex disease. Hum. Mol. Genet. 20(R2), R182-R188 (2011).
27. Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet 375(9725), 1525-1535 (2010).