-
1
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
International Human Genome Sequencing Consortium
-
Lander ES, Linton LM, Birren B et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
-
2
-
-
0035895505
-
The sequence of the human genome
-
Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291: 1304-1351.
-
(2001)
Science
, vol.291
, pp. 1304-1351
-
-
Venter, J.C.1
Adams, M.D.2
Myers, E.W.3
-
4
-
-
84865833740
-
High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing
-
Wagle N, Berger MF, Davis MJ, et al. High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing. Cancer Discov 2012; 2: 82-93.
-
(2012)
Cancer Discov
, vol.2
, pp. 82-93
-
-
Wagle, N.1
Berger, M.F.2
Davis, M.J.3
-
5
-
-
84857924235
-
-
National Cancer Institute. NIH, (accessed Feb 2014)
-
National Cancer Institute. Targeted cancer therapies. NIH, 2012. http://www.cancer.gov/cancertopics/factsheet/Therapy/targeted (accessed Feb 2014).
-
(2012)
Targeted cancer therapies.
-
-
-
6
-
-
79955038968
-
Use of whole-genome sequencing to diagnose a cryptic fusion oncogene
-
Welch JS, Westervelt P, Ding L, et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 2011; 305: 1577-1584.
-
(2011)
JAMA
, vol.305
, pp. 1577-1584
-
-
Welch, J.S.1
Westervelt, P.2
Ding, L.3
-
7
-
-
77955293476
-
Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors
-
Jones SJ, Laskin J, Li YY, et al. Evolution of an adenocarcinoma in response to selection by targeted kinase inhibitors. Genome Biol 2010; 11: R82.
-
(2010)
Genome Biol
, vol.11
-
-
Jones, S.J.1
Laskin, J.2
Li, Y.Y.3
-
8
-
-
84864429034
-
Collaborative Ocular Oncology Group report number 1: Prospective validation of a multi-gene prognostic assay in uveal melanoma
-
Onken MD, Worley LA, Char DH, et al. Collaborative Ocular Oncology Group report number 1: prospective validation of a multi-gene prognostic assay in uveal melanoma. Ophthalmology 2012; 119: 1596-1603.
-
(2012)
Ophthalmology
, vol.119
, pp. 1596-1603
-
-
Onken, M.D.1
Worley, L.A.2
Char, D.H.3
-
9
-
-
80054742079
-
Plasma nucleic acid analysis by massively parallel sequencing: Pathological insights and diagnostic implications
-
Lo D, Chiu RW. Plasma nucleic acid analysis by massively parallel sequencing: pathological insights and diagnostic implications. J Pathol 2011; 225: 318-323.
-
(2011)
J Pathol
, vol.225
, pp. 318-323
-
-
Lo, D.1
Chiu, R.W.2
-
10
-
-
72049109814
-
Clinical use of pharmacogenomic tests in 2009
-
Sheffield LJ, Phillimore HE. Clinical use of pharmacogenomic tests in 2009. Clin Biochem Rev 2009; 30: 55-65.
-
(2009)
Clin Biochem Rev
, vol.30
, pp. 55-65
-
-
Sheffield, L.J.1
Phillimore, H.E.2
-
11
-
-
84869396522
-
Pharmacogenomics in clinical practice and drug development
-
Harper AR, Topol EJ. Pharmacogenomics in clinical practice and drug development. Nat Biotechnol 2012; 30: 1117-1124.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 1117-1124
-
-
Harper, A.R.1
Topol, E.J.2
-
12
-
-
79957880949
-
Mining for therapeutic gold
-
Collins FS. Mining for therapeutic gold. Nat Rev Drug Discov 2011; 10: 397.
-
(2011)
Nat Rev Drug Discov
, vol.10
, pp. 397
-
-
Collins, F.S.1
-
13
-
-
84904510130
-
-
Royal College of Pathologists of Australia. RCPA, (accessed Feb 2014)
-
Royal College of Pathologists of Australia. RCPA catalogue of genetic tests and laboratories. RCPA, 2009. http://genetictesting.rcpa.edu.au (accessed Feb 2014).
-
(2009)
RCPA catalogue of genetic tests and laboratories.
-
-
-
14
-
-
84858591772
-
Targeted next-generation sequencing expands the spectrum of mitochondrial disorders
-
Hahn SH. Targeted next-generation sequencing expands the spectrum of mitochondrial disorders. Genome Med 2012; 4: 22.
-
(2012)
Genome Med
, vol.4
, pp. 22
-
-
Hahn, S.H.1
-
15
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med 2010; 362: 1181-1191.
-
(2010)
N Engl J Med
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
-
17
-
-
84941877290
-
-
National Health and Medical Research Council. Australian Government, (accessed Jan 2014)
-
National Health and Medical Research Council. Direct-to-consumer DNA genetic testing: an information resource for consumers. Australian Government, 2012. http://www.nhmrc.gov.au/guidelines/publications/ ps0004 (accessed Jan 2014).
-
(2012)
Direct-to-consumer DNA genetic testing: An information resource for consumers.
-
-
-
19
-
-
84888297169
-
-
National Institutes of Health. US Department of Health and Human Services, (accessed Feb 2014)
-
National Institutes of Health. NIH program explores the use of genomic sequencing in newborn healthcare. US Department of Health and Human Services, 2013. http://www.nih.gov/news/health/sep2013/nhgri-04.htm (accessed Feb 2014).
-
(2013)
NIH program explores the use of genomic sequencing in newborn healthcare.
-
-
-
21
-
-
55049135914
-
Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours (review)
-
Marteau TM, French DP, Griffin SJ, et al. effects of communicating DNA-based disease risk estimates on risk-reducing behaviours (review). Cochrane Database Syst Rev 2010; (10): CD007275.
-
(2010)
Cochrane Database Syst Rev
, Issue.10
-
-
Marteau, T.M.1
French, D.P.2
Griffin, S.J.3
-
22
-
-
84904488029
-
-
Department of Health. Genomics England: (accessed Feb 2014)
-
Department of Health. The 100K Genome Project. Genomics England: 2014. http://www.genomicsengland.co.uk (accessed Feb 2014).
-
(2014)
The 100K Genome Project.
-
-
-
23
-
-
79951472909
-
Charting a course for genomic medicine from base pairs to bedside
-
Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature 2011; 470: 204-213.
-
(2011)
Nature
, vol.470
, pp. 204-213
-
-
Green, E.D.1
Guyer, M.S.2
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