References
- Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Hum. Mol. Genet.19(R2), R119–R124 (2010).
- Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol.12(9), 228 (2011).
- 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).
- Clark MJ, Chen R, Lam HY et al. Performance comparison of exome DNA sequencing technologies. Nat. Biotechnol.29(10), 908–914 (2011).
- Choi M, Scholl UI, Ji W et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA106(45), 19096–19101 (2009).
- 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).
- 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).
- 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).
- 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).
- 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).
- 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).
- 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).
- Koboldt DC, Ding L, Mardis ER, Wilson RK. Challenges of sequencing human genomes. Brief Bioinform.11(5), 484–498 (2010).
- 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).
- 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).
- Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology138(6), 2044–2058 (2010).
- 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).
- 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. USA107(28), 12629–12633 (2010).
- 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).
- 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).
- Kingsmore SF, Saunders CJ. Deep sequencing of patient genomes for disease diagnosis: when will it become routine? Sci. Transl. Med.3(87), 87ps23 (2011).
- 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).
- Welch JS, Westervelt P, Ding L et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA305(15), 1577–1584 (2011).
- 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).
- Chan IS, Ginsburg GS. Personalized medicine: progress and promise. Annu. Rev. Genomics Hum. Genet.12, 217–244 (2011).
- Jostins L, Barrett JC. Genetic risk prediction in complex disease. Hum. Mol. Genet.20(R2), R182–R188 (2011).
- Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet375(9725), 1525–1535 (2010).