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PMID: 23681062 Published · ppublish English Journal Article Review

Molecular genetic testing and the future of clinical genomics.

Nature reviews. Genetics ·Vol. 14 ·No. 6 ·2013-06-00 ·Pages 415-26

Katsanis SH, Katsanis N

Abstract

Genomic technologies are reaching the point of being able to detect genetic variation in patients at high accuracy and reduced cost, offering the promise of fundamentally altering medicine. Still, although scientists and policy advisers grapple with how to interpret and how to handle the onslaught and ambiguity of genome-wide data, established and well-validated molecular technologies continue to have an important role, especially in regions of the world that have more limited access to next-generation sequencing capabilities. Here we review the range of methods currently available in a clinical setting as well as emerging approaches in clinical molecular diagnostics. In parallel, we outline implementation challenges that will be necessary to address to ensure the future of genetic medicine.

MeSH Terms
Animals Evaluation Studies as Topic Genetic Testing/economics,ethics,legislation & jurisprudence,standards Genome-Wide Association Study Genomics Humans Karyotyping Molecular Diagnostic Techniques/economics,ethics,standards Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Sequence Analysis, DNA United States
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Katsanis Sara Huston
Duke Institute for Genome Sciences and Policy, Duke University Medical Center, Durham, North Carolina 27710, USA. [email protected]
Katsanis Nicholas
References (161)
161 references, click to expand
  1. Concordance study of 3 direct-to-consumer genetic-testing services.
    Clin Chem. 2011 Mar;57(3):518-21 PMID: 21159896
  2. Oversight of US genetic testing laboratories.
    Nat Biotechnol. 2006 Sep;24(9):1083-90 PMID: 16964214
  3. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
    Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7 PMID: 20498079
  4. Advances in prenatal screening: the ethical dimension.
    Nat Rev Genet. 2011 Aug 18;12(9):657-63 PMID: 21850045
  5. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
    Genet Med. 2008 Apr;10(4):294-300 PMID: 18414213
  6. Subjects matter: a survey of public opinions about a large genetic cohort study.
    Genet Med. 2008 Nov;10(11):831-9 PMID: 19011407
  7. Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population.
    Haemophilia. 2011 Sep;17(5):e936-43 PMID: 21649803
  8. Evaluation of in silico splice tools for decision-making in molecular diagnosis.
    Hum Mutat. 2008 Jul;29(7):975-82 PMID: 18449911
  9. Association between health-service use and multiplex genetic testing.
    Genet Med. 2012 Oct;14(10):852-9 PMID: 22595941
  10. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
    Am J Hum Genet. 2008 Nov;83(5):610-5 PMID: 18950739
  11. Complement factor H variant increases the risk of age-related macular degeneration.
    Science. 2005 Apr 15;308(5720):419-21 PMID: 15761120
  12. The Zebrafish Information Network: the zebrafish model organism database.
    Nucleic Acids Res. 2006 Jan 1;34(Database issue):D581-5 PMID: 16381936
  13. Identifying insertion mutations by whole-genome sequencing.
    Biotechniques. 2011 Feb;50(2):96-7 PMID: 21486250
  14. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
    Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101 PMID: 19861545
  15. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration.
    Proc Natl Acad Sci U S A. 2005 May 17;102(20):7227-32 PMID: 15870199
  16. OTX2 mutations contribute to the otocephaly-dysgnathia complex.
    J Med Genet. 2012 Jun;49(6):373-9 PMID: 22577225
  17. DNA patents and diagnostics: not a pretty picture.
    Nat Biotechnol. 2010 Aug;28(8):784-91 PMID: 20697400
  18. Complement factor H polymorphism in age-related macular degeneration.
    Science. 2005 Apr 15;308(5720):385-9 PMID: 15761122
  19. Medicine. Whole-genome sequencing: the new standard of care?
    Science. 2012 Jun 1;336(6085):1112-3 PMID: 22654044
  20. Massively parallel sequencing and rare disease.
    Hum Mol Genet. 2010 Oct 15;19(R2):R119-24 PMID: 20846941
  21. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration.
    Hum Genomics. 2011 Jul;5(5):420-40 PMID: 21807600
  22. A genetic approach to stratification of risk for age-related macular degeneration.
    Can J Ophthalmol. 2010 Feb;45(1):22-7 PMID: 20130705
  23. Genomics, health care, and society.
    N Engl J Med. 2011 Sep 15;365(11):1033-41 PMID: 21916641
  24. Noonan syndrome and clinically related disorders.
    Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79 PMID: 21396583
  25. Public expectations for return of results from large-cohort genetic research.
    Am J Bioeth. 2008 Nov;8(11):36-43 PMID: 19061108
  26. Preimplantation genetic diagnosis and screening.
    Semin Reprod Med. 2005 Nov;23(4):336-47 PMID: 16317622
  27. Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network.
    Genet Med. 2012 Apr;14(4):424-31 PMID: 22361898
  28. Evaluating patient experience in online health communities: implications for health care organizations.
    Health Care Manage Rev. 2011 Apr-Jun;36(2):124-33 PMID: 21317657
  29. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies.
    BMC Med Genomics. 2011 Jan 26;4:13 PMID: 21269473
  30. Health-related Internet use by patients with somatic diseases: frequency of use and characteristics of users.
    Inform Health Soc Care. 2009 Jan;34(1):18-29 PMID: 19306196
  31. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.
    Genet Med. 2011 Mar;13(3):218-29 PMID: 21270641
  32. Ethical considerations for pharmacogenomic testing in pediatric clinical care and research.
    Pharmacogenomics. 2011 Jun;12(6):889-95 PMID: 21692618
  33. Whole-genome sequencing: a step closer to personalized medicine.
    JAMA. 2011 Apr 20;305(15):1596-7 PMID: 21505140
  34. Loss-of-function variants in the genomes of healthy humans.
    Hum Mol Genet. 2010 Oct 15;19(R2):R125-30 PMID: 20805107
  35. Personal genomes: Standard and pores.
    Nature. 2008 Nov 6;456(7218):23-5 PMID: 18987710
  36. Clinical application of exome sequencing in undiagnosed genetic conditions.
    J Med Genet. 2012 Jun;49(6):353-61 PMID: 22581936
  37. Sequencing of genomic DNA by combined amplification and cycle sequencing reaction.
    Clin Chem. 2005 Jan;51(1):35-9 PMID: 15514094
  38. Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality.
    Genet Epidemiol. 2011 Dec;35(8):887-98 PMID: 22125226
  39. From genetic privacy to open consent.
    Nat Rev Genet. 2008 May;9(5):406-11 PMID: 18379574
  40. Sequencing technologies - the next generation.
    Nat Rev Genet. 2010 Jan;11(1):31-46 PMID: 19997069
  41. Legal pressures and incentives for personalized medicine.
    Per Med. 2006 Nov;3(4):391-397 PMID: 29788592
  42. Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.
    Genet Med. 2011 Jun;13(6):499-504 PMID: 21558861
  43. Copy number and SNP arrays in clinical diagnostics.
    Annu Rev Genomics Hum Genet. 2011;12:25-51 PMID: 21801020
  44. MLPA for confirmation of array CGH results and determination of inheritance.
    Mol Cytogenet. 2010 Oct 13;3:19 PMID: 20942916
  45. The advent of personal genome sequencing.
    Genet Med. 2011 Mar;13(3):188-90 PMID: 21311341
  46. Public perspectives on informed consent for biobanking.
    Am J Public Health. 2009 Dec;99(12):2128-34 PMID: 19833988
  47. Whole-genome sequencing for optimized patient management.
    Sci Transl Med. 2011 Jun 15;3(87):87re3 PMID: 21677200
  48. Genomics education for health care professionals in the 21st century.
    JAMA. 2011 Sep 7;306(9):989-90 PMID: 21900139
  49. New applications and developments in the use of multiplex ligation-dependent probe amplification.
    Electrophoresis. 2008 Dec;29(23):4627-36 PMID: 19053154
  50. Public and biobank participant attitudes toward genetic research participation and data sharing.
    Public Health Genomics. 2010;13(6):368-77 PMID: 20805700
  51. Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act.
    Fam Cancer. 2012 Dec;11(4):637-44 PMID: 22890887
  52. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
    N Engl J Med. 2010 Apr 1;362(13):1181-91 PMID: 20220177
  53. Consent for use of personal information for health research: do people with potentially stigmatizing health conditions and the general public differ in their opinions?
    BMC Med Ethics. 2009 Jul 24;10:10 PMID: 19630941
  54. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
    Cell. 2012 Apr 27;149(3):525-37 PMID: 22521361
  55. Is there a case in favour of predictive genetic testing in young children?
    Bioethics. 2001 Feb;15(1):26-49 PMID: 11699548
  56. The Mouse Genome Database (MGD): premier model organism resource for mammalian genomics and genetics.
    Nucleic Acids Res. 2011 Jan;39(Database issue):D842-8 PMID: 21051359
  57. The characterization of twenty sequenced human genomes.
    PLoS Genet. 2010 Sep 09;6(9):e1001111 PMID: 20838461
  58. Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.
    PLoS One. 2012;7(3):e34195 PMID: 22479560
  59. Lessons from predictive testing for Huntington disease: 25 years on.
    J Med Genet. 2011 Oct;48(10):649-50 PMID: 21931167
  60. Connecting and sharing on the Web. At 'crowd-sourced' disease sites, patients can swap stories-and data.
    US News World Rep. 2009 Aug;146(7):82-3 PMID: 19685777
  61. Fluorescence in situ hybridization.
    Clin Lab Med. 2011 Dec;31(4):525-42, vii-viii PMID: 22118735
  62. DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders.
    Hum Mol Genet. 2012 Oct 15;21(R1):R37-44 PMID: 22962312
  63. To tell or not to tell? A systematic review of ethical reflections on incidental findings arising in genetics contexts.
    Eur J Hum Genet. 2013 Mar;21(3):248-55 PMID: 22739341
  64. Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications.
    Discov Med. 2011 Jul;12(62):41-55 PMID: 21794208
  65. Presenting evidence and summary measures to best inform societal decisions when comparing multiple strategies.
    Pharmacoeconomics. 2011 Jul;29(7):563-77 PMID: 21671686
  66. Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches.
    J Thromb Haemost. 2010 Apr;8(4):783-9 PMID: 20102489
  67. Chromosomal microarray versus karyotyping for prenatal diagnosis.
    N Engl J Med. 2012 Dec 6;367(23):2175-84 PMID: 23215555
  68. ESEfinder: A web resource to identify exonic splicing enhancers.
    Nucleic Acids Res. 2003 Jul 1;31(13):3568-71 PMID: 12824367
  69. Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis.
    PLoS One. 2011;6(9):e23161 PMID: 21957438
  70. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
    Sci Transl Med. 2012 Oct 3;4(154):154ra135 PMID: 23035047
  71. What can exome sequencing do for you?
    J Med Genet. 2011 Sep;48(9):580-9 PMID: 21730106
  72. Evaluating Phenotypic Data Elements for Genetics and Epidemiological Research: Experiences from the eMERGE and PhenX Network Projects.
    AMIA Jt Summits Transl Sci Proc. 2011;2011:41-5 PMID: 22211178
  73. Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study.
    Genet Med. 2012 Apr;14(4):451-7 PMID: 22402755
  74. The predictive capacity of personal genome sequencing.
    Sci Transl Med. 2012 May 9;4(133):133ra58 PMID: 22472521
  75. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).
    Hum Mutat. 2011 May;32(5):564-7 PMID: 21472891
  76. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
    Eur J Hum Genet. 2013 Mar;21(3):261-5 PMID: 22892536
  77. Practices and policies of clinical exome sequencing providers: analysis and implications.
    Am J Med Genet A. 2013 May;161A(5):935-50 PMID: 23610049
  78. Carrier testing in minors: conflicting views.
    Nat Rev Genet. 2007 Nov;8(11):828 PMID: 17943191
  79. Functional modules, mutational load and human genetic disease.
    Trends Genet. 2010 Apr;26(4):168-76 PMID: 20226561
  80. A timely arrival for genomic medicine.
    Genet Med. 2011 Mar;13(3):195-6 PMID: 21169843
  81. Wrestling with the future: should we test children for adult-onset genetic conditions?
    Kennedy Inst Ethics J. 1998 Jun;8(2):111-30 PMID: 11657424
  82. C. elegans as a model organism for in vivo screening in cancer: effects of human c-Met in lung cancer affect C. elegans vulva phenotypes.
    Cancer Biol Ther. 2008 Jun;7(6):856-63 PMID: 18340114
  83. Exome sequencing and the genetic basis of complex traits.
    Nat Genet. 2012 May 29;44(6):623-30 PMID: 22641211
  84. Applications of array comparative genomic hybridization in obstetrics.
    Obstet Gynecol Clin North Am. 2010 Mar;37(1):71-85, Table of Contents PMID: 20494259
  85. Genomic risk profiling: attitudes and use in personal and clinical care of primary care physicians who offer risk profiling.
    J Gen Intern Med. 2011 Aug;26(8):834-40 PMID: 21311998
  86. Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
    Hum Mol Genet. 2010 Nov 15;19(22):4313-8 PMID: 20719861
  87. Regulating genetic tests: issues that guide policy decisions.
    Genet Test Mol Biomarkers. 2012 Jan;16(1):1-2 PMID: 22276932
  88. On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium.
    Genet Epidemiol. 2011 Dec;35(8):880-6 PMID: 22125225
  89. Exome sequencing deciphers rare diseases.
    Cell. 2011 Mar 4;144(5):635-7 PMID: 21376225
  90. Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing.
    Genome Res. 2011 Aug;21(8):1388-93 PMID: 21555365
  91. Clinical genomic testing: getting it right.
    J Cardiovasc Transl Res. 2008 Mar;1(1):17-20 PMID: 20559953
  92. Detection of unstable trinucleotide repeats.
    Methods Mol Med. 1996;5:37-62 PMID: 21374511
  93. The genetic testing of children. Working Party of the Clinical Genetics Society (UK)
    J Med Genet. 1994 Oct;31(10):785-97 PMID: 7837256
  94. Survey of genetic counselors and clinical geneticists' use and attitudes toward pharmacogenetic testing.
    Clin Genet. 2012 Aug;82(2):115-20 PMID: 22283474
  95. The general public's understanding and perception of direct-to-consumer genetic test results.
    Public Health Genomics. 2012;15(1):11-21 PMID: 21720148
  96. Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers.
    Genet Med. 2010 Apr;12(4 Suppl):S15-38 PMID: 20393305
  97. Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysis.
    Prenat Diagn. 2012 Jun;32(6):578-87 PMID: 22517437
  98. The mouse ascending: perspectives for human-disease models.
    Nat Cell Biol. 2007 Sep;9(9):993-9 PMID: 17762889
  99. Personalized medicine: progress and promise.
    Annu Rev Genomics Hum Genet. 2011;12:217-44 PMID: 21721939
  100. Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms.
    Am J Med Genet A. 2012 Jun;158A(6):1310-9 PMID: 22532433
  101. Evaluation of the validity and utility of genetic testing for rare diseases.
    Adv Exp Med Biol. 2010;686:115-31 PMID: 20824443
  102. One community's effort to control genetic disease.
    Am J Public Health. 2012 Jul;102(7):1300-6 PMID: 22594747
  103. Human genome sequencing in health and disease.
    Annu Rev Med. 2012;63:35-61 PMID: 22248320
  104. The wide variation of definitions of genetic testing in international recommendations, guidelines and reports.
    J Community Genet. 2012 Apr;3(2):113-24 PMID: 22368105
  105. European practices of genetic information and insurance: lessons for the Genetic Information Nondiscrimination Act.
    JAMA. 2008 Jul 16;300(3):326-7 PMID: 18632546
  106. Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems.
    Genome Biol. 2011 Nov 08;12(11):R112 PMID: 22067484
  107. The potential and challenges of nanopore sequencing.
    Nat Biotechnol. 2008 Oct;26(10):1146-53 PMID: 18846088
  108. The futility of genomic counseling: essential role of electronic health records.
    Genome Med. 2009 May 08;1(5):48 PMID: 19439060
  109. Diagnostic exome sequencing in persons with severe intellectual disability.
    N Engl J Med. 2012 Nov 15;367(20):1921-9 PMID: 23033978
  110. Noninvasive whole-genome sequencing of a human fetus.
    Sci Transl Med. 2012 Jun 6;4(137):137ra76 PMID: 22674554
  111. Chapter 6: Structural variation and medical genomics.
    PLoS Comput Biol. 2012;8(12):e1002821 PMID: 23300412
  112. Sharing health data for better outcomes on PatientsLikeMe.
    J Med Internet Res. 2010 Jun 14;12(2):e19 PMID: 20542858
  113. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.
    Nat Genet. 2006 Apr;38(4):458-62 PMID: 16518403
  114. Genomic sequencing in clinical trials.
    J Transl Med. 2011 Dec 30;9:222 PMID: 22206293
  115. A systematic survey of loss-of-function variants in human protein-coding genes.
    Science. 2012 Feb 17;335(6070):823-8 PMID: 22344438
  116. Parent opinions regarding the genetic testing of minors for BRCA1/2.
    J Clin Oncol. 2010 Jul 20;28(21):3498-505 PMID: 20567018
  117. Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies.
    Blood. 2011 Apr 28;117(17):4552-60 PMID: 21285439
  118. A method and server for predicting damaging missense mutations.
    Nat Methods. 2010 Apr;7(4):248-9 PMID: 20354512
  119. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.
    Br J Ophthalmol. 2007 Dec;91(12):1650-5 PMID: 18024811
  120. Clinical assessment incorporating a personal genome.
    Lancet. 2010 May 1;375(9725):1525-35 PMID: 20435227
  121. Medicine. The ultimate genetic test.
    Science. 2012 Jun 1;336(6085):1110-2 PMID: 22654043
  122. A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers.
    BMC Genomics. 2012 Jul 24;13:341 PMID: 22827831
  123. Beyond Mendel: an evolving view of human genetic disease transmission.
    Nat Rev Genet. 2002 Oct;3(10):779-89 PMID: 12360236
  124. Complement factor H polymorphism and age-related macular degeneration.
    Science. 2005 Apr 15;308(5720):421-4 PMID: 15761121
  125. Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
    Science. 2010 Apr 30;328(5978):636-9 PMID: 20220176
  126. The Human Gene Mutation Database: 2008 update.
    Genome Med. 2009 Jan 22;1(1):13 PMID: 19348700
  127. A window into third-generation sequencing.
    Hum Mol Genet. 2010 Oct 15;19(R2):R227-40 PMID: 20858600
  128. Educating health-care professionals about genetics and genomics.
    Nat Rev Genet. 2007 Feb;8(2):151-7 PMID: 17230201
  129. Charting a course for genomic medicine from base pairs to bedside.
    Nature. 2011 Feb 10;470(7333):204-13 PMID: 21307933
  130. Comparison of solution-based exome capture methods for next generation sequencing.
    Genome Biol. 2011 Sep 28;12(9):R94 PMID: 21955854
  131. Personal omics profiling reveals dynamic molecular and medical phenotypes.
    Cell. 2012 Mar 16;148(6):1293-307 PMID: 22424236
  132. Using the internet for health-related activities: findings from a national probability sample.
    J Med Internet Res. 2009 Feb 20;11(1):e4 PMID: 19275980
  133. A comprehensive analysis of high school genetics standards: are states keeping pace with modern genetics?
    CBE Life Sci Educ. 2011 Fall;10(3):318-27 PMID: 21885828
  134. MutaDATABASE: a centralized and standardized DNA variation database.
    Nat Biotechnol. 2011 Feb;29(2):117-8 PMID: 21301433
  135. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
    Genet Med. 2011 Mar;13(3):255-62 PMID: 21173700
  136. Crowdsourced health research studies: an important emerging complement to clinical trials in the public health research ecosystem.
    J Med Internet Res. 2012 Mar 07;14(2):e46 PMID: 22397809
  137. An international survey of predictive genetic testing in children for adult onset conditions.
    Genet Med. 2005 Jul-Aug;7(6):390-6 PMID: 16024970
  138. Is the DNA sequence the gold standard in genetic testing? Quality of molecular genetic tests assessed.
    Clin Chem. 2006 Apr;52(4):557-8 PMID: 16595822
  139. Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.
    Genome Res. 2005 Jul;15(7):978-86 PMID: 15965030
  140. Exome sequencing identifies the cause of a mendelian disorder.
    Nat Genet. 2010 Jan;42(1):30-5 PMID: 19915526
  141. Whole exome and whole genome sequencing.
    Curr Opin Pediatr. 2011 Dec;23(6):594-600 PMID: 21881504
  142. The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors.
    J Genet Couns. 2010 Aug;19(4):315-27 PMID: 20440545
  143. Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration.
    JAMA. 2006 Jul 19;296(3):301-9 PMID: 16849663
  144. Lingering questions and doubts: online information-seeking of support forum members following their medical visits.
    Patient Educ Couns. 2011 Dec;85(3):525-8 PMID: 21315538
  145. A public resource facilitating clinical use of genomes.
    Proc Natl Acad Sci U S A. 2012 Jul 24;109(30):11920-7 PMID: 22797899
  146. Realizing genomic medicine.
    N Engl J Med. 2012 Feb 23;366(8):757-9 PMID: 22356329
  147. A probabilistic disease-gene finder for personal genomes.
    Genome Res. 2011 Sep;21(9):1529-42 PMID: 21700766
  148. Establishing the essential nursing competencies for genetics and genomics.
    J Nurs Scholarsh. 2007;39(1):10-6 PMID: 17393960
  149. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
    Nat Genet. 2011 Jan;43(1):72-8 PMID: 21131972
  150. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
    Lancet. 2012 Nov 10;380(9854):1674-82 PMID: 23020937
  151. SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method.
    J Mol Diagn. 2010 May;12(3):272-7 PMID: 20203000
  152. Commentary: Personalized health planning and the Patient Protection and Affordable Care Act: an opportunity for academic medicine to lead health care reform.
    Acad Med. 2010 Nov;85(11):1665-8 PMID: 20844424
  153. "Why do we have to learn this stuff?"--a new genetics for 21st century students.
    PLoS Biol. 2012;10(7):e1001356 PMID: 22802724
  154. Attitudes towards predictive genetic testing in minors for familial breast cancer: a systematic review.
    Crit Rev Oncol Hematol. 2007 Dec;64(3):173-81 PMID: 17553690
  155. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.
    Nat Rev Genet. 2011 Aug 18;12(9):628-40 PMID: 21850043
  156. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm.
    Nat Protoc. 2009;4(7):1073-81 PMID: 19561590
  157. Comparison of three targeted enrichment strategies on the SOLiD sequencing platform.
    PLoS One. 2011 Apr 29;6(4):e18595 PMID: 21559511
  158. Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.
    Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9 PMID: 12826609
  159. Disease-targeted sequencing: a cornerstone in the clinic.
    Nat Rev Genet. 2013 Apr;14(4):295-300 PMID: 23478348
  160. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene.
    Am J Hum Genet. 2002 May;70(5):1277-86 PMID: 11951178
  161. Comparison of next-generation sequencing systems.
    J Biomed Biotechnol. 2012;2012:251364 PMID: 22829749
Article Info
Journal
Nature reviews. Genetics
Abbr.
Nat Rev Genet
ISSN
1471-0064
DOI
10.1038/nrg3493
Email
[email protected]
Published
2013-06-00
Pages
415-26
Language
English
Region
England
NLM ID
100962779
PMCID
PMC4461364
Subset
IM
Grants
NIDDK NIH HHS · P50 DK096415 · United States
NIDDK NIH HHS · R01 DK072301 · United States
NIDDK NIH HHS · R01 DK075972 · United States
NICHD NIH HHS · R01 HD042601 · United States
External Links
PubMed source DOI: 10.1038/nrg3493 PMC Full Text View journal details
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