-
1
-
-
78049357122
-
Human genomes: Genomes by the thousands
-
Katsnelson A. Human genomes: genomes by the thousands. Nature 2010; 467:1026-1027.
-
(2010)
Nature
, vol.467
, pp. 1026-1027
-
-
Katsnelson, A.1
-
4
-
-
35648976118
-
The diploid genome sequence of an individual human
-
Levy S, Sutton G, Ng PC, et al. The diploid genome sequence of an individual human. PLoS Biol 2007;5:e254.
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
-
5
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
DOI 10.1038/nature06884, PII NATURE06884
-
Wheeler DA, Srinivasan M, Egholm M, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008;452: 872-876. (Pubitemid 351550870)
-
(2008)
Nature
, vol.452
, Issue.7189
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.-J.8
Makhijani, V.9
Roth, G.T.10
Gomes, X.11
Tartaro, K.12
Niazi, F.13
Turcotte, C.L.14
Irzyk, G.P.15
Lupski, J.R.16
Chinault, C.17
Song, X.-Z.18
Liu, Y.19
Yuan, Y.20
Nazareth, L.21
Qin, X.22
Muzny, D.M.23
Margulies, M.24
Weinstock, G.M.25
Gibbs, R.A.26
Rothberg, J.M.27
more..
-
6
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J, Wang W, Li R, et al. The diploid genome sequence of an Asian individual. Nature 2008;456:60-65.
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
Wang, W.2
Li, R.3
-
7
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456:53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
-
8
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
Ashley EA, Butte AJ, Wheeler MT, et al. Clinical assessment incorporating a personal genome. Lancet 2010;375:1525-1535.
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.A.1
Butte, A.J.2
Wheeler, M.T.3
-
9
-
-
69749090013
-
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding
-
McKernan KJ, Peckham HE, Costa GL, et al. Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res 2009;19: 1527-1541.
-
(2009)
Genome Res
, vol.19
, pp. 1527-1541
-
-
McKernan, K.J.1
Peckham, H.E.2
Costa, G.L.3
-
10
-
-
77952586314
-
The 1000 Genomes Project: New opportunities for research and social challenges
-
Via M, Gignoux C, Burchard EG. The 1000 Genomes Project: new opportunities for research and social challenges. Genome Med 2010;2:3.
-
(2010)
Genome Med
, vol.2
, pp. 3
-
-
Via, M.1
Gignoux, C.2
Burchard, E.G.3
-
11
-
-
84867724867
-
An informatics approach to analyzing the incidentalome
-
Berg JS, Adams M, Nassar N, et al. An informatics approach to analyzing the incidentalome. Genet Med 2013;15:36-44.
-
(2013)
Genet Med
, vol.15
, pp. 36-44
-
-
Berg, J.S.1
Adams, M.2
Nassar, N.3
-
12
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green RC, Berg JS, Berry GT, et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2012;14: 405-410.
-
(2012)
Genet Med
, vol.14
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
-
13
-
-
84867707134
-
Next-generation sequencing in the clinic: Are we ready?
-
Biesecker LG, Burke W, Kohane I, Plon SE, Zimmern R. Next-generation sequencing in the clinic: are we ready? Nat Rev Genet 2012;13:818-824.
-
(2012)
Nat Rev Genet
, vol.13
, pp. 818-824
-
-
Biesecker, L.G.1
Burke, W.2
Kohane, I.3
Plon, S.E.4
Zimmern, R.5
-
14
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
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 2011;13:499-504.
-
(2011)
Genet Med
, vol.13
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
15
-
-
84859619831
-
Return of individual research results from genome-wide association studies: Experience of the Electronic Medical Records and Genomics (eMERGE) Network
-
Fullerton SM, Wolf WA, Brothers KB, et al. Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med 2012;14:424-431.
-
(2012)
Genet Med
, vol.14
, pp. 424-431
-
-
Fullerton, S.M.1
Wolf, W.A.2
Brothers, K.B.3
-
16
-
-
84867350321
-
Opportunities and challenges associated with clinical diagnostic genome sequencing: A report of the Association for Molecular Pathology
-
Schrijver I, Aziz N, Farkas DH, et al. Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology. J Mol Diagn 2012;14:525-540.
-
(2012)
J Mol Diagn
, vol.14
, pp. 525-540
-
-
Schrijver, I.1
Aziz, N.2
Farkas, D.H.3
-
17
-
-
59849108152
-
The evaluation of genomic applications in practice and prevention (EGAPP) Initiative: Methods of the EGAPP Working Group
-
EGAPP Working Group
-
Teutsch SM, Bradley LA, Palomaki GE, et al.; EGAPP Working Group. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: methods of the EGAPP Working Group. Genet Med 2009;11: 3-14.
-
(2009)
Genet Med
, vol.11
, pp. 3-14
-
-
Teutsch, S.M.1
Bradley, L.A.2
Palomaki, G.E.3
-
18
-
-
38449093344
-
Update on the methods of the U.S. preventive services task force: Estimating certainty and magnitude of net benefit
-
Sawaya GF, Guirguis-Blake J, LeFevre M, Harris R, Petitti D; U.S. Preventive Services Task Force. Update on the methods of the U.S. Preventive Services Task Force: estimating certainty and magnitude of net benefit. Ann Intern Med 2007;147:871-875. (Pubitemid 351664424)
-
(2007)
Annals of Internal Medicine
, vol.147
, Issue.12
, pp. 871-875
-
-
Sawaya, G.F.1
Guirguis-Blake, J.2
LeFevre, M.3
Harris, R.4
Petitti, D.5
-
19
-
-
79955777858
-
-
Institute of Medicine Accessed 21 November 2012
-
Institute of Medicine. Clinical practice guidelines we can trust. http://www.iom. edu/Reports/2011/Clinical-Practice-Guidelines-We-Can-Trust.aspx. Accessed 21 November 2012.
-
Clinical Practice Guidelines We Can Trust
-
-
-
21
-
-
84876172734
-
Evidence summaries: The evolution of a rapid review approach
-
Khangura S, Konnyu K, Cushman R, Grimshaw J, Moher D. Evidence summaries: the evolution of a rapid review approach. Syst Rev 2012;1:10.
-
(2012)
Syst Rev
, vol.1
, pp. 10
-
-
Khangura, S.1
Konnyu, K.2
Cushman, R.3
Grimshaw, J.4
Moher, D.5
-
22
-
-
42049120470
-
Revisiting Wilson and Jungner in the genomic age: A review of screening criteria over the past 40 years
-
DOI 10.2471/BLT.07.050112
-
Andermann A, Blancquaert I, Beauchamp S, Drsy V. Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years. Bull World Health Organ 2008;86:317-319. (Pubitemid 351521860)
-
(2008)
Bulletin of the World Health Organization
, vol.86
, Issue.4
, pp. 317-319
-
-
Andermann, A.1
Blancquaert, I.2
Beauchamp, S.3
Dery, V.4
-
24
-
-
84883863984
-
-
UK National Screening Committee Accessed 23 July 2012
-
UK National Screening Committee. UK National screening committee criteria. http://www.screening.nhs.uk/criteria. Accessed 23 July 2012.
-
UK National Screening Committee Criteria
-
-
-
25
-
-
0032401720
-
Iron overload, public health, and genetics: Evaluating the evidence for hemochromatosis screening
-
Cogswell ME, McDonnell SM, Khoury MJ, Franks AL, Burke W, Brittenham G. Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. Ann Intern Med 1998;129:971-979. (Pubitemid 28549835)
-
(1998)
Annals of Internal Medicine
, vol.129
, Issue.11
, pp. 971-979
-
-
Cogswell, M.E.1
McDonnell, S.M.2
Khoury, M.J.3
Franks, A.L.4
Burke, W.5
Brittenham, G.6
-
26
-
-
77954101543
-
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children
-
Advisory Committee on Heritable Disorders in Newborns and Children
-
Calonge N, Green NS, Rinaldo P, et al.; Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med 2010;12:153-159.
-
(2010)
Genet Med
, vol.12
, pp. 153-159
-
-
Calonge, N.1
Green, N.S.2
Rinaldo, P.3
-
27
-
-
33846017336
-
Current status of newborn screening: Decision-making about the conditions to include in screening programs
-
DOI 10.1002/mrdd.20127
-
Watson MS. Current status of newborn screening: decision-making about the conditions to include in screening programs. Ment Retard Dev Disabil Res Rev 2006;12:230-235. (Pubitemid 46053448)
-
(2006)
Mental Retardation and Developmental Disabilities Research Reviews
, vol.12
, Issue.4
, pp. 230-235
-
-
Watson, M.S.1
-
28
-
-
77649314222
-
Towards universal newborn screening in developing countries: Obstacles and the way forward
-
Padilla CD. Towards universal newborn screening in developing countries: obstacles and the way forward. Ann Acad Med Singap 2008;37(suppl 12): 6-4.
-
(2008)
Ann Acad Med Singap
, vol.37
, Issue.SUPPL. 12
, pp. 6-4
-
-
Padilla, C.D.1
-
29
-
-
77952519509
-
Considerations in choosing screening conditions: One (US) approach
-
Therrell BL Jr. Considerations in choosing screening conditions: one (US) approach. Ann Acad Med Singap 2008;37(suppl 12):22-25.
-
(2008)
Ann Acad Med Singap
, vol.37
, Issue.SUPPL. 12
, pp. 22-25
-
-
Therrell Jr., B.L.1
-
31
-
-
79960481627
-
Reconsidering the criteria for evaluating proposed screening programs: Reflections from 4 current and former members of the U.S. Preventive services task force
-
Harris R, Sawaya GF, Moyer VA, Calonge N. Reconsidering the criteria for evaluating proposed screening programs: reflections from 4 current and former members of the U.S. Preventive services task force. Epidemiol Rev 2011;33: 20-35.
-
(2011)
Epidemiol Rev
, vol.33
, pp. 20-35
-
-
Harris, R.1
Sawaya, G.F.2
Moyer, V.A.3
Calonge, N.4
-
33
-
-
84973587732
-
A coefficient of agreement for nominal scales
-
Cohen J. A coefficient of agreement for nominal scales. Educ Psychol Meas 1960;20:37-46.
-
(1960)
Educ Psychol Meas
, vol.20
, pp. 37-46
-
-
Cohen, J.1
-
34
-
-
77953120762
-
EASL clinical practice guidelines for HFE hemochromatosis
-
European Association For The Study Of The Liver
-
European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53:3-22.
-
(2010)
J Hepatol
, vol.53
, pp. 3-22
-
-
-
35
-
-
36349010904
-
Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls
-
DOI 10.1002/hep.21885
-
Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG. Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology 2007;46:1071-1080. (Pubitemid 350144771)
-
(2007)
Hepatology
, vol.46
, Issue.4
, pp. 1071-1080
-
-
Ellervik, C.1
Birgens, H.2
Tybjaerg-Hansen, A.3
Nordestgaard, B.G.4
-
36
-
-
77954608997
-
AGREE II: Advancing guideline development reporting and evaluation in health care
-
AGREE Next Steps Consortium
-
Brouwers MC, Kho ME, Browman GP, et al.; AGREE Next Steps Consortium. AGREE II: advancing guideline development, reporting and evaluation in health care. CMAJ 2010;182:E839-E842.
-
(2010)
CMAJ
, vol.182
-
-
Brouwers, M.C.1
Kho, M.E.2
Browman, G.P.3
-
37
-
-
67849127882
-
AMSTAR is a reliable and valid measurement tool to assess the methodological quality of systematic reviews
-
Shea BJ, Hamel C, Wells GA, et al. AMSTAR is a reliable and valid measurement tool to assess the methodological quality of systematic reviews. J Clin Epidemiol 2009;62:1013-1020.
-
(2009)
J Clin Epidemiol
, vol.62
, pp. 1013-1020
-
-
Shea, B.J.1
Hamel, C.2
Wells, G.A.3
-
38
-
-
84872062684
-
Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: An EGAPP methods update
-
Veenstra DL, Piper M, Haddow JE, et al. Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update. Genet Med 2013;15:14-24.
-
(2013)
Genet Med
, vol.15
, pp. 14-24
-
-
Veenstra, D.L.1
Piper, M.2
Haddow, J.E.3
-
39
-
-
77951482885
-
Outcomes of interest in evidence-based evaluations of genetic tests
-
EGAPP Working Group
-
Botkin JR, Teutsch SM, Kaye CI, et al.; EGAPP Working Group. Outcomes of interest in evidence-based evaluations of genetic tests. Genet Med 2010;12:228-235.
-
(2010)
Genet Med
, vol.12
, pp. 228-235
-
-
Botkin, J.R.1
Teutsch, S.M.2
Kaye, C.I.3
|