References
- Baudhuin LM, Burgart LJ, Leontovich O, Thibodeau SN. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam. Cancer.4(3), 255–265 (2005).
- Grady WM. Genetic testing for high-risk colon cancer patients. Gastroenterology124(6), 1574–1594 (2003).
- Lichtenstein P, Holm NV, Verkasalo PK et al. Environmental and heritable factors in the causation of cancer – analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med.343(2), 78–85 (2000).
- Zhang J, Chiodini R, Badr A, Zhang G. The impact of next-generation sequencing on genomics. J. Genet. Genomics38(3), 95–109 (2011).
- Horner DS, Pavesi G, Castrignano T et al. Bioinformatics approaches for genomics and post genomics applications of next-generation sequencing. Brief. Bioinform.11(2), 181–197 (2010).
- Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res.33, D514–D517 (2005).
- Pagon RA. GeneTests: an online genetic information resource for health care providers. JMLA94(3), 343–348 (2006).
- Stenson PD, Mort M, Ball EV et al. The Human Gene Mutation Database: 2008 update. Genome Med.1(1), 13 (2009).
- International HapMap Consortium. The International HapMap Project. Nature426(6968), 789–796 (2003).
- Durbin RM, Abecasis GR, Altshuler DL et al. A map of human genome variation from population-scale sequencing. Nature467(7319), 1061–1073 (2010).
- Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res.11(5), 863–874 (2001).
- Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum. Mol. Genet.10(6), 591–597 (2001).
- Jegga AG, Gowrisankar S, Chen J, Aronow BJ. PolyDoms: a whole genome database for the identification of non-synonymous coding SNPs with the potential to impact disease. Nucleic Acids Res.35, D700–D706 (2007).
- Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J. Comput. Biol.4(3), 311–323 (1997).
- Rogozin IB, Milanesi L. Analysis of donor splice signals in different organisms. J. Mol. Evol.45, 50–59 (1997).
- Bale S, Devisscher M, Criekinge WV et al. MutaDATABASE: a centralized and standardized DNA variation database. Nat. Biotech.29, 117–118 (2011).
- Choi M, Scholl UI, Ji Wet al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA.106(45), 19096–19101 (2009).
- Collins FS. Genome-sequencing anniversary. Faces of the genome. Science331(6017), 546 (2011).
Websites
- SeattleSeq Annotation http://gvs.gs.washington.edu/SeattleSeqAnnotation
- The International Standards for Cytogenomic Arrays Consortium www.iscaconsortium.org
- Check W. Next-gen sequencing in clinical debuts. CAP Today 2011 www.cap.org/apps/cap.portal?_nfpb=true&cntvwrPtlt_actionOverride=%2Fportlets%2FcontentViewer%2Fshow&_windowLabel=cntvwrPtlt&cntvwrPtlt%7BactionForm.contentReference%7D=cap_today%2F0411%2F0411a_next_gen.html&_state=maximized&_pageLabel=cntvwr