Clinical exome sequencing in daily practice: 1,000 patients and beyond
- PMID: 24456652
- PMCID: PMC3978472
- DOI: 10.1186/gm521
Clinical exome sequencing in daily practice: 1,000 patients and beyond
References
-
- Johnston JJ, Rubinstein WS, Facio FM, Ng D, Singh LN, Teer JK, Mullikin JC, Biesecker LG. Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am J Hum Genet. 2012;91:97–108. doi: 10.1016/j.ajhg.2012.05.021. - DOI - PMC - PubMed
-
- Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJT, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJL, Kremer H, Koolen DA, van de Warrenburg BPC, Cremers FPM, Marcelis CLM, Smeitink JAM, Wortmann SB, van Zelst-Stams WAG, Veltman JA, Brunner HG. et al.A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat. 2013;34:1721–1726. doi: 10.1002/humu.22450. - DOI - PubMed
-
- de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–1929. doi: 10.1056/NEJMoa1206524. - DOI - PubMed
LinkOut - more resources
Full Text Sources
Other Literature Sources