-
1
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
[CrossRef] [PubMed]
-
Green, R.C.; Berg, J.S.; Grody, W.W.; Kalia, S.S.; Korf, B.R.; Martin, C.L.; McGuire, A.L.; Nussbaum, R.L.; O'Daniel, J.M.; Ormond, K.E.; et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 2013, 15, 565-574. [CrossRef] [PubMed]
-
(2013)
Genet. Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
-
2
-
-
33746921634
-
The personal genome project
-
[CrossRef] [PubMed]
-
Church, G.M. The personal genome project. Mol. Syst. Biol. 2005, 1, 2005.0030. [CrossRef] [PubMed]
-
(2005)
Mol. Syst. Biol
, vol.1
, pp. 2005.0030
-
-
Church, G.M.1
-
3
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
[CrossRef] [PubMed]
-
Drmanac, R.; Sparks, A.B.; Callow, M.J.; Halpern, A.L.; Burns, N.L.; Kermani, B.G.; Carnevali, P.; Nazarenko, I.; Nilsen, G.B.; Yeung, G.; et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010, 327, 78-81. [CrossRef] [PubMed]
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
Kermani, B.G.6
Carnevali, P.7
Nazarenko, I.8
Nilsen, G.B.9
Yeung, G.10
-
4
-
-
35648976118
-
The diploid genome sequence of an individual human
-
[CrossRef] [PubMed]
-
Levy, S.; Sutton, G.; Ng, P.C.; Feuk, L.; Halpern, A.L.; Walenz, B.P.; Axelrod, N.; Huang, J.; Kirkness, E.F.; Denisov, G.; et al. The diploid genome sequence of an individual human. PLoS Biol. 2007, 5, e254. [CrossRef] [PubMed]
-
(2007)
PLoS Biol
, vol.5
-
-
Levy, S.1
Sutton, G.2
Ng, P.C.3
Feuk, L.4
Halpern, A.L.5
Walenz, B.P.6
Axelrod, N.7
Huang, J.8
Kirkness, E.F.9
Denisov, G.10
-
5
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
[CrossRef] [PubMed]
-
Wheeler, D.A.; Srinivasan, M.; Egholm, M.; Shen, Y.; Chen, L.; McGuire, A.; He, W.; Chen, Y.-J.; Makhijani, V.; Roth, G.T.; et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008, 452, 872-876. [CrossRef] [PubMed]
-
(2008)
Nature
, vol.452
, 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
-
6
-
-
70249089090
-
Single-molecule sequencing of an individual human genome
-
[CrossRef] [PubMed]
-
Pushkarev, D.; Neff, N.F.; Quake, S.R. Single-molecule sequencing of an individual human genome. Nat. Biotechnol. 2009, 27, 847-850. [CrossRef] [PubMed]
-
(2009)
Nat. Biotechnol
, vol.27
, pp. 847-850
-
-
Pushkarev, D.1
Neff, N.F.2
Quake, S.R.3
-
7
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
[CrossRef]
-
Ashley, E.A.; Butte, A.J.; Wheeler, M.T.; Chen, R.; Klein, T.E.; Dewey, F.E.; Dudley, J.T.; Ormond, K.E.; Pavlovic, A.; Morgan, A.A.; et al. Clinical assessment incorporating a personal genome. Lancet 2010, 375, 1525-1535. [CrossRef]
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.A.1
Butte, A.J.2
Wheeler, M.T.3
Chen, R.4
Klein, T.E.5
Dewey, F.E.6
Dudley, J.T.7
Ormond, K.E.8
Pavlovic, A.9
Morgan, A.A.10
-
8
-
-
80053447840
-
Phased whole-genome genetic risk in a family quartet using a major allele reference sequence
-
[CrossRef] [PubMed]
-
Dewey, F.E.; Chen, R.; Cordero, S.P.; Ormond, K.E.; Caleshu, C.; Karczewski, K.J.; Whirl-Carrillo, M.; Wheeler, M.T.; Dudley, J.T.; Byrnes, J.K.; et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet. 2011, 7, e1002280. [CrossRef] [PubMed]
-
(2011)
PLoS Genet
, vol.7
-
-
Dewey, F.E.1
Chen, R.2
Cordero, S.P.3
Ormond, K.E.4
Caleshu, C.5
Karczewski, K.J.6
Whirl-Carrillo, M.7
Wheeler, M.T.8
Dudley, J.T.9
Byrnes, J.K.10
-
9
-
-
84858433310
-
Personal omics profiling reveals dynamic molecular and medical phenotypes
-
[CrossRef] [PubMed]
-
Chen, R.; Mias, G.I.; Li-Pook-Than, J.; Jiang, L.; Lam, H.Y.K.; Chen, R.; Miriami, E.; Karczewski, K.J.; Hariharan, M.; Dewey, F.E.; et al. Personal omics profiling reveals dynamic molecular and medical phenotypes. Cell 2012, 148, 1293-1307. [CrossRef] [PubMed]
-
(2012)
Cell
, vol.148
, pp. 1293-1307
-
-
Chen, R.1
Mias, G.I.2
Li-Pook-Than, J.3
Jiang, L.4
Lam, H.Y.K.5
Chen, R.6
Miriami, E.7
Karczewski, K.J.8
Hariharan, M.9
Dewey, F.E.10
-
10
-
-
84878361900
-
Clinical genome sequencing
-
Ginsberg, G.S., Willard, H.F., Eds.; Elsevier Science: Philadelphia, PA, USA
-
Green, R.C.; Rehm, H.L.; Kohane, I.S. Clinical genome sequencing. In Genomic and Personalized Medicine; Ginsberg, G.S., Willard, H.F., Eds.; Elsevier Science: Philadelphia, PA, USA, 2012; Volumes 1-2, pp. 102-122.
-
(2012)
Genomic and Personalized Medicine
, vol.1-2
, pp. 102-122
-
-
Green, R.C.1
Rehm, H.L.2
Kohane, I.S.3
-
11
-
-
0037413486
-
Population screening in the age of genomic medicine
-
[PubMed]
-
Khoury, M.J.; McCabe, L.L.; McCabe, E.R.B. Population screening in the age of genomic medicine. N. Engl. J. Med. 2003, 348, 50-58. [PubMed]
-
(2003)
N. Engl. J. Med
, vol.348
, pp. 50-58
-
-
Khoury, M.J.1
McCabe, L.L.2
McCabe, E.R.B.3
-
12
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet. Med. 2012, 14, 759-761.
-
(2012)
Genet. Med
, vol.14
, pp. 759-761
-
-
-
13
-
-
85022225718
-
The promise and peril of genomic screening in the general population
-
[CrossRef] [PubMed]
-
Adams, M.C.; Evans, J.P.; Henderson, G.E.; Berg, J.S. The promise and peril of genomic screening in the general population. Genet. Med. 2015. [CrossRef] [PubMed]
-
(2015)
Genet. Med
-
-
Adams, M.C.1
Evans, J.P.2
Henderson, G.E.3
Berg, J.S.4
-
14
-
-
84949266797
-
Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening
-
[CrossRef] [PubMed]
-
Berg, J.S.; Powell, C.M. Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening. Cold Spring Harb. Perspect. Med. 2015, 5, a023150. [CrossRef] [PubMed]
-
(2015)
Cold Spring Harb. Perspect. Med
, vol.5
-
-
Berg, J.S.1
Powell, C.M.2
-
15
-
-
84929903122
-
Look before you leap: Genomic screening in obstetrics and gynecology
-
[CrossRef] [PubMed]
-
Adams, M.C.; Berg, J.S.; Pearlman, M.D.; Vora, N.L. Look before you leap: Genomic screening in obstetrics and gynecology. Obstet. Gynecol. 2015, 125, 1299-1305. [CrossRef] [PubMed]
-
(2015)
Obstet. Gynecol
, vol.125
, pp. 1299-1305
-
-
Adams, M.C.1
Berg, J.S.2
Pearlman, M.D.3
Vora, N.L.4
-
16
-
-
84951906736
-
Population genetic testing for cancer susceptibility: Founder mutations to genomes
-
[CrossRef] [PubMed]
-
Foulkes,W.D.; Knoppers, B.M.; Turnbull, C. Population genetic testing for cancer susceptibility: Founder mutations to genomes. Nat. Rev. Clin. Oncol. 2016, 13, 41-54. [CrossRef] [PubMed]
-
(2016)
Nat. Rev. Clin. Oncol
, vol.13
, pp. 41-54
-
-
Foulkes, W.D.1
Knoppers, B.M.2
Turnbull, C.3
-
17
-
-
84920774885
-
"Someday it will be the norm": Physician perspectives on the utility of genome sequencing for patient care in the MedSeqProject
-
[CrossRef] [PubMed]
-
Vassy, J.L.; Christensen, K.D.; Slashinski, M.J.; Lautenbach, D.M.; Raghavan, S.; Robinson, J.O.; Blumenthal-Barby, J.; Feuerman, L.Z.; Lehmann, L.S.; Murray, M.F.; et al. "Someday it will be the norm": Physician perspectives on the utility of genome sequencing for patient care in the MedSeqProject. Per. Med. 2015, 12, 23-32. [CrossRef] [PubMed]
-
(2015)
Per. Med
, vol.12
, pp. 23-32
-
-
Vassy, J.L.1
Christensen, K.D.2
Slashinski, M.J.3
Lautenbach, D.M.4
Raghavan, S.5
Robinson, J.O.6
Blumenthal-Barby, J.7
Feuerman, L.Z.8
Lehmann, L.S.9
Murray, M.F.10
-
18
-
-
84901622632
-
Adult genetic risk screening
-
[CrossRef] [PubMed]
-
Caskey, C.T.; Gonzalez-Garay, M.L.; Pereira, S.; McGuire, A.L. Adult genetic risk screening. Annu. Rev. Med. 2014, 65, 1-17. [CrossRef] [PubMed]
-
(2014)
Annu. Rev. Med
, vol.65
, pp. 1-17
-
-
Caskey, C.T.1
Gonzalez-Garay, M.L.2
Pereira, S.3
McGuire, A.L.4
-
19
-
-
84924407226
-
Closing the gap between knowledge and clinical application: Challenges for genomic translation
-
[CrossRef] [PubMed]
-
Burke,W.; Korngiebel, D.M. Closing the gap between knowledge and clinical application: Challenges for genomic translation. PLoS Genet. 2015, 11, e1004978. [CrossRef] [PubMed]
-
(2015)
PLoS Genet
, vol.11
-
-
Burke, W.1
Korngiebel, D.M.2
-
20
-
-
82955233708
-
Personalizing medicine with clinical pharmacogenetics
-
[CrossRef] [PubMed]
-
Scott, S.A. Personalizing medicine with clinical pharmacogenetics. Genet. Med. 2011, 13, 987-995. [CrossRef] [PubMed]
-
(2011)
Genet. Med
, vol.13
, pp. 987-995
-
-
Scott, S.A.1
-
21
-
-
84884302025
-
Communicating genetic risk information for common disorders in the era of genomic medicine
-
[CrossRef] [PubMed]
-
Lautenbach, D.M.; Christensen, K.D.; Sparks, J.A.; Green, R.C. Communicating genetic risk information for common disorders in the era of genomic medicine. Annu. Rev. Genomics Hum. Genet. 2013, 14, 491-513. [CrossRef] [PubMed]
-
(2013)
Annu. Rev. Genomics Hum. Genet
, vol.14
, pp. 491-513
-
-
Lautenbach, D.M.1
Christensen, K.D.2
Sparks, J.A.3
Green, R.C.4
-
22
-
-
84893573654
-
Regulation: The FDA is overcautious on consumer genomics
-
[CrossRef] [PubMed]
-
Green, R.C.; Farahany, N.A. Regulation: The FDA is overcautious on consumer genomics. Nature 2014, 505, 286-287. [CrossRef] [PubMed]
-
(2014)
Nature
, vol.505
, pp. 286-287
-
-
Green, R.C.1
Farahany, N.A.2
-
23
-
-
40749095927
-
Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL Study
-
Chao, S.; Roberts, J.S.; Marteau, T.M.; Silliman, R.; Cupples, L.A.; Green, R.C. Health behavior changes after genetic risk assessment for Alzheimer disease: The REVEAL Study. Alzheimer Dis. Assoc. Disord. 2008, 22, 94-97. doi:10.1097/WAD.0b013e31815a9dcc.
-
(2008)
Alzheimer Dis. Assoc. Disord
, vol.22
, pp. 94-97
-
-
Chao, S.1
Roberts, J.S.2
Marteau, T.M.3
Silliman, R.4
Cupples, L.A.5
Green, R.C.6
-
24
-
-
84959230547
-
Incorporating a genetic risk score into coronary heart disease risk estimates: Effect on LDL cholesterol levels (the MIGENES clinical trial)
-
CIRCULATIONAHA.115.020109. [CrossRef]
-
Kullo, I.J.; Jouni, H.; Austin, E.E.; Brown, S.-A.; Kruisselbrink, T.M.; Isseh, I.N.; Haddad, R.A.; Marroush, T.S.; Shameer, K.; Olson, J.E.; et al. Incorporating a genetic risk score into coronary heart disease risk estimates: Effect on LDL cholesterol levels (the MIGENES clinical trial). Circulation 2016, CIRCULATIONAHA.115.020109. [CrossRef]
-
(2016)
Circulation
-
-
Kullo, I.J.1
Jouni, H.2
Austin, E.E.3
Brown, S.-A.4
Kruisselbrink, T.M.5
Isseh, I.N.6
Haddad, R.A.7
Marroush, T.S.8
Shameer, K.9
Olson, J.E.10
-
25
-
-
84924095064
-
Integrating big data and actionable health coaching to optimize wellness
-
[CrossRef] [PubMed]
-
Hood, L.; Lovejoy, J.C.; Price, N.D. Integrating big data and actionable health coaching to optimize wellness. BMC Med. 2015, 13, 4. [CrossRef] [PubMed]
-
(2015)
BMC Med
, vol.13
, pp. 4
-
-
Hood, L.1
Lovejoy, J.C.2
Price, N.D.3
-
26
-
-
79851486605
-
Power to the people: Participant ownership of clinical trial data
-
[CrossRef] [PubMed]
-
Terry, S.F.; Terry, P.F. Power to the people: Participant ownership of clinical trial data. Sci. Transl. Med. 2011, 3, 69cm3. [CrossRef] [PubMed]
-
(2011)
Sci. Transl. Med
, vol.3
-
-
Terry, S.F.1
Terry, P.F.2
-
27
-
-
80755125656
-
You never call, you never write: Why return of "omic" results to research participants is both a good idea and a moral imperative
-
[CrossRef] [PubMed]
-
Angrist, M. You never call, you never write: Why return of "omic" results to research participants is both a good idea and a moral imperative. Per. Med. 2011, 8, 651-657. [CrossRef] [PubMed]
-
(2011)
Per. Med
, vol.8
, pp. 651-657
-
-
Angrist, M.1
-
28
-
-
84859566974
-
Managing incidental findings and research results in genomic research involving biobanks and archived data sets
-
[CrossRef] [PubMed]
-
Wolf, S.M.; Crock, B.N.; Van Ness, B.; Lawrenz, F.; Kahn, J.P.; Beskow, L.M.; Cho, M.K.; Christman, M.F.; Green, R.C.; Hall, R.; et al. Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genet. Med. 2012, 14, 361-384. [CrossRef] [PubMed]
-
(2012)
Genet. Med
, vol.14
, pp. 361-384
-
-
Wolf, S.M.1
Crock, B.N.2
Van Ness, B.3
Lawrenz, F.4
Kahn, J.P.5
Beskow, L.M.6
Cho, M.K.7
Christman, M.F.8
Green, R.C.9
Hall, R.10
-
29
-
-
84937591383
-
Returning a research participant's genomic results to relatives: Analysis and recommendations
-
[PubMed]
-
Wolf, S.M.; Branum, R.; Koenig, B.A.; Petersen, G.M.; Berry, S.A.; Beskow, L.M.; Daly, M.B.; Fernandez, C.V.; Green, R.C.; LeRoy, B.S.; et al. Returning a research participant's genomic results to relatives: Analysis and recommendations. J. Law. Med. Ethics 2015, 43, 440-463. [PubMed]
-
(2015)
J. Law. Med. Ethics
, vol.43
, pp. 440-463
-
-
Wolf, S.M.1
Branum, R.2
Koenig, B.A.3
Petersen, G.M.4
Berry, S.A.5
Beskow, L.M.6
Daly, M.B.7
Fernandez, C.V.8
Green, R.C.9
LeRoy, B.S.10
-
30
-
-
72449126831
-
Eyes wide open: The personal genome project, citizen science and veracity in informed consent
-
[CrossRef] [PubMed]
-
Angrist, M. Eyes wide open: The personal genome project, citizen science and veracity in informed consent. Per. Med. 2009, 6, 691-699. [CrossRef] [PubMed]
-
(2009)
Per. Med
, vol.6
, pp. 691-699
-
-
Angrist, M.1
-
31
-
-
84878342197
-
Should we sequence everyone's genome?
-
[CrossRef] [PubMed]
-
Flinter, F. Should we sequence everyone's genome? BMJ 2013, 346, 16-17. [CrossRef] [PubMed]
-
(2013)
BMJ
, vol.346
, pp. 16-17
-
-
Flinter, F.1
-
32
-
-
84889067060
-
Reflections on the cost of "low-cost" whole genome sequencing: Framing the health policy debate
-
[CrossRef] [PubMed]
-
Caulfield, T.; Evans, J.; McGuire, A.; McCabe, C.; Bubela, T.; Cook-Deegan, R.; Fishman, J.; Hogarth, S.; Miller, F.A.; Ravitsky, V.; et al. Reflections on the cost of "low-cost" whole genome sequencing: Framing the health policy debate. PLoS Biol. 2013, 11, e1001699. [CrossRef] [PubMed]
-
(2013)
PLoS Biol
, vol.11
-
-
Caulfield, T.1
Evans, J.2
McGuire, A.3
McCabe, C.4
Bubela, T.5
Cook-Deegan, R.6
Fishman, J.7
Hogarth, S.8
Miller, F.A.9
Ravitsky, V.10
-
33
-
-
84924217281
-
The hundred person wellness project and Google's baseline study: Medical revolution or unnecessary and potentially harmful over-testing?
-
[CrossRef] [PubMed]
-
Diamandis, E.P. The hundred person wellness project and Google's baseline study: Medical revolution or unnecessary and potentially harmful over-testing? BMC Med. 2015, 13, 5. [CrossRef] [PubMed]
-
(2015)
BMC Med
, vol.13
, pp. 5
-
-
Diamandis, E.P.1
-
34
-
-
85022216294
-
-
(accessed on 1 January 2016)
-
Arivale. Available online: https://www.arivale.com (accessed on 1 January 2016).
-
Arivale
-
-
-
35
-
-
85022227774
-
-
(accessed on 11 February 2016)
-
Health Nucleus. Available online: https://www.healthnucleus.com (accessed on 11 February 2016).
-
Health Nucleus
-
-
-
36
-
-
85022216104
-
-
(accessed on 7 March 2016)
-
Veritas Genetics. Available online: https://www.veritasgenetics.com (accessed on 7 March 2016).
-
Veritas Genetics
-
-
-
37
-
-
84938940641
-
Preparing the next generation of genomicists: A laboratory-style course in medical genomics
-
[CrossRef] [PubMed]
-
Linderman, M.D.; Bashir, A.; Diaz, G.A.; Kasarskis, A.; Sanderson, S.C.; Zinberg, R.E.; Mahajan, M.; Shah, H.; Suckiel, S.; Zweig, M.; et al. Preparing the next generation of genomicists: A laboratory-style course in medical genomics. BMC Med. Genomics 2015, 8, 47. [CrossRef] [PubMed]
-
(2015)
BMC Med. Genomics
, vol.8
, pp. 47
-
-
Linderman, M.D.1
Bashir, A.2
Diaz, G.A.3
Kasarskis, A.4
Sanderson, S.C.5
Zinberg, R.E.6
Mahajan, M.7
Shah, H.8
Suckiel, S.9
Zweig, M.10
-
38
-
-
85022190823
-
-
(accessed on 3 March 2016)
-
The BabySeq Project. Available online: http://www.genomes2people.org/babyseqproject/ (accessed on 3 March 2016).
-
The BabySeq Project
-
-
-
39
-
-
78649464216
-
Personal genomes in progress: From the human genome project to the personal genome project
-
[PubMed]
-
Lunshof, J.E.; Bobe, J.; Aach, J.; Angrist, M.; Thakuria, J.V.; Vorhaus, D.B.; Hoehe, M.R.; Church, G.M. Personal genomes in progress: From the human genome project to the personal genome project. Dialogues Clin. Neurosci. 2010, 12, 47-60. [PubMed]
-
(2010)
Dialogues Clin. Neurosci
, vol.12
, pp. 47-60
-
-
Lunshof, J.E.1
Bobe, J.2
Aach, J.3
Angrist, M.4
Thakuria, J.V.5
Vorhaus, D.B.6
Hoehe, M.R.7
Church, G.M.8
-
40
-
-
84896882531
-
Harvard Personal Genome Project: Lessons from participatory public research
-
[CrossRef] [PubMed]
-
Ball, M.P.; Bobe, J.R.; Chou, M.F.; Clegg, T.; Estep, P.W.; Lunshof, J.E.; Vandewege, W.; Zaranek, A.; Church, G.M. Harvard Personal Genome Project: Lessons from participatory public research. Genome Med. 2014, 6, 10. [CrossRef] [PubMed]
-
(2014)
Genome Med
, vol.6
, pp. 10
-
-
Ball, M.P.1
Bobe, J.R.2
Chou, M.F.3
Clegg, T.4
Estep, P.W.5
Lunshof, J.E.6
Vandewege, W.7
Zaranek, A.8
Church, G.M.9
-
41
-
-
69749108657
-
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
-
[CrossRef] [PubMed]
-
Biesecker, L.G.; Mullikin, J.C.; Facio, F.M.; Turner, C.; Cherukuri, P.F.; Blakesley, R.W.; Bouffard, G.G.; Chines, P.S.; Cruz, P.; Hansen, N.F.; et al. The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine. Genome Res. 2009, 19, 1665-1674. [CrossRef] [PubMed]
-
(2009)
Genome Res
, vol.19
, pp. 1665-1674
-
-
Biesecker, L.G.1
Mullikin, J.C.2
Facio, F.M.3
Turner, C.4
Cherukuri, P.F.5
Blakesley, R.W.6
Bouffard, G.G.7
Chines, P.S.8
Cruz, P.9
Hansen, N.F.10
-
42
-
-
84885826842
-
Personalized genomic disease risk of volunteers
-
[CrossRef] [PubMed]
-
Gonzalez-Garay, M.L.; McGuire, A.L.; Pereira, S.; Caskey, C.T. Personalized genomic disease risk of volunteers. Proc. Natl. Acad. Sci. USA 2013, 110, 16957-16962. [CrossRef] [PubMed]
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 16957-16962
-
-
Gonzalez-Garay, M.L.1
McGuire, A.L.2
Pereira, S.3
Caskey, C.T.4
-
43
-
-
85022188605
-
Considerations for the processing and direct-to-consumer return of exome sequences
-
San Francisco, CA, USA, 6-10 November
-
Harrington, E.D.; McLean, C.; Shmygelska, A.; Chowdry, A.; Naughton, B. Considerations for the processing and direct-to-consumer return of exome sequences. In Proceedings of the 62th Annual Meeting of the American Society of Human Genetics, San Francisco, CA, USA, 6-10 November 2012.
-
(2012)
Proceedings of the 62th Annual Meeting of the American Society of Human Genetics
-
-
Harrington, E.D.1
McLean, C.2
Shmygelska, A.3
Chowdry, A.4
Naughton, B.5
-
44
-
-
85022212007
-
Characterization of sequence variants from the first direct-to-consumer exome pilot project
-
San Francisco, CA, USA
-
Shmygelska, A.; Harrington, E.; McLean, C.; Chowdry, A.; Naughton, B. Characterization of sequence variants from the first direct-to-consumer exome pilot project. In Proceedings of the 62th Annual Meeting of The American Society of Human Genetics, San Francisco, CA, USA; 2012.
-
(2012)
Proceedings of the 62th Annual Meeting of The American Society of Human Genetics
-
-
Shmygelska, A.1
Harrington, E.2
McLean, C.3
Chowdry, A.4
Naughton, B.5
-
45
-
-
84898883459
-
The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine
-
[CrossRef] [PubMed]
-
Vassy, J.L.; Lautenbach, D.M.; McLaughlin, H.M.; Kong, S.W.; Christensen, K.D.; Krier, J.; Kohane, I.S.; Feuerman, L.Z.; Blumenthal-Barby, J.; Roberts, J.S.; et al. The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine. Trials 2014, 15, 85. [CrossRef] [PubMed]
-
(2014)
Trials
, vol.15
, pp. 85
-
-
Vassy, J.L.1
Lautenbach, D.M.2
McLaughlin, H.M.3
Kong, S.W.4
Christensen, K.D.5
Krier, J.6
Kohane, I.S.7
Feuerman, L.Z.8
Blumenthal-Barby, J.9
Roberts, J.S.10
-
46
-
-
84941654036
-
Summarizing polygenic risks for complex diseases in a clinical whole-genome report
-
[CrossRef] [PubMed]
-
Kong, S.W.; Lee, I.-H.; Leshchiner, I.; Krier, J.; Kraft, P.; Rehm, H.L.; Green, R.C.; Kohane, I.S.; MacRae, C.A. Summarizing polygenic risks for complex diseases in a clinical whole-genome report. Genet. Med. 2014, 1, 536-544. [CrossRef] [PubMed]
-
(2014)
Genet. Med
, vol.1
, pp. 536-544
-
-
Kong, S.W.1
Lee, I.-H.2
Leshchiner, I.3
Krier, J.4
Kraft, P.5
Rehm, H.L.6
Green, R.C.7
Kohane, I.S.8
MacRae, C.A.9
-
47
-
-
84924276557
-
A one-page summary report of genome sequencing for the healthy adult
-
[CrossRef] [PubMed]
-
Vassy, J.L.; McLaughlin, H.M.; McLaughlin, H.L.; MacRae, C.A.; Seidman, C.E.; Lautenbach, D.; Krier, J.B.; Lane, W.J.; Kohane, I.S.; Murray, M.F.; et al. A one-page summary report of genome sequencing for the healthy adult. Public Health Genomics 2015, 18, 123-129. [CrossRef] [PubMed]
-
(2015)
Public Health Genomics
, vol.18
, pp. 123-129
-
-
Vassy, J.L.1
McLaughlin, H.M.2
McLaughlin, H.L.3
MacRae, C.A.4
Seidman, C.E.5
Lautenbach, D.6
Krier, J.B.7
Lane, W.J.8
Kohane, I.S.9
Murray, M.F.10
-
48
-
-
84951574112
-
Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project
-
[CrossRef] [PubMed]
-
Sanderson, S.C.; Linderman, M.D.; Suckiel, S.A.; Diaz, G.A.; Zinberg, R.E.; Ferryman, K.;Wasserstein, M.; Kasarskis, A.; Schadt, E.E. Motivations, concerns and preferences of personal genome sequencing research participants: Baseline findings from the HealthSeq project. Eur. J. Hum. Genet. 2016, 24, 14-20. [CrossRef] [PubMed]
-
(2016)
Eur. J. Hum. Genet
, vol.24
, pp. 14-20
-
-
Sanderson, S.C.1
Linderman, M.D.2
Suckiel, S.A.3
Diaz, G.A.4
Zinberg, R.E.5
Ferryman, K.6
Wasserstein, M.7
Kasarskis, A.8
Schadt, E.E.9
-
49
-
-
85022215536
-
-
(accessed on 8 March 2016)
-
Illumina TruGenome Predisposition Screen. Available online: http://www.illumina.com/content/dam/ illumina-marketing/documents/clinical/trugenome-intended-use-predisposition-screen.pdf (accessed on 8 March 2016).
-
Illumina TruGenome Predisposition Screen
-
-
-
50
-
-
85022203024
-
Whole Exome Sequencing of Ten Scientists: Evaluation of Process and Outcomes
-
Nashville, TN, USA, 25-29 March
-
Hunt, K.; McCormick, J.; Lindor, N.; Schahl, K.; Johnson, K.; Mensink, K.; Fiksdal, A.; Highsmith,W.; Klee, E.; Wieben, E. Whole Exome Sequencing of Ten Scientists: Evaluation of Process and Outcomes. In Proceedings of the 2014 ACMG Annual Clinical Genetics Meeting, Nashville, TN, USA, 25-29 March 2014.
-
(2014)
Proceedings of the 2014 ACMG Annual Clinical Genetics Meeting
-
-
Hunt, K.1
McCormick, J.2
Lindor, N.3
Schahl, K.4
Johnson, K.5
Mensink, K.6
Fiksdal, A.7
Highsmith, W.8
Klee, E.9
Wieben, E.10
-
51
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
[CrossRef] [PubMed]
-
Dewey, F.E.; Grove, M.E.; Pan, C.; Goldstein, B.A.; Bernstein, J.A.; Chaib, H.; Merker, J.D.; Goldfeder, R.L.; Enns, G.M.; David, S.P.; et al. Clinical interpretation and implications of whole-genome sequencing. JAMA 2014, 311, 1035-1045. [CrossRef] [PubMed]
-
(2014)
JAMA
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
Merker, J.D.7
Goldfeder, R.L.8
Enns, G.M.9
David, S.P.10
-
52
-
-
84984945132
-
The Geisinger MyCode community health initiative: An electronic health record-linked biobank for precision medicine research
-
[CrossRef] [PubMed]
-
Carey, D.J.; Fetterolf, S.N.; Davis, F.D.; Faucett,W.A.; Kirchner, H.L.; Mirshahi, U.; Murray, M.F.; Smelser, D.T.; Gerhard, G.S.; Ledbetter, D.H. The Geisinger MyCode community health initiative: An electronic health record-linked biobank for precision medicine research. Genet. Med. 2016. [CrossRef] [PubMed]
-
(2016)
Genet. Med
-
-
Carey, D.J.1
Fetterolf, S.N.2
Davis, F.D.3
Faucett, W.A.4
Kirchner, H.L.5
Mirshahi, U.6
Murray, M.F.7
Smelser, D.T.8
Gerhard, G.S.9
Ledbetter, D.H.10
-
53
-
-
84896330378
-
Demystifying disease, democratizing health care
-
[CrossRef] [PubMed]
-
Hood, L.; Price, N.D. Demystifying disease, democratizing health care. Sci. Transl. Med. 2014, 6, 225ed5. [CrossRef] [PubMed]
-
(2014)
Sci. Transl. Med
, vol.6
-
-
Hood, L.1
Price, N.D.2
-
54
-
-
84930329858
-
Genomic screening of the general adult population: Key concepts for assessing net benefit with systematic evidence reviews
-
[CrossRef] [PubMed]
-
Prince, A.E.R.; Berg, J.S.; Evans, J.P.; Jonas, D.E.; Henderson, G. Genomic screening of the general adult population: Key concepts for assessing net benefit with systematic evidence reviews. Genet. Med. 2015, 17, 441-443. [CrossRef] [PubMed]
-
(2015)
Genet. Med
, vol.17
, pp. 441-443
-
-
Prince, A.E.R.1
Berg, J.S.2
Evans, J.P.3
Jonas, D.E.4
Henderson, G.5
-
55
-
-
85022216364
-
-
(accessed on 3 March 2016)
-
Baylor Miraca Adult Screening Exome Sequencing. Available online: https://www.bcm.edu/research/ medical-genetics-labs/test_detail.cfm?testcode=1605 (accessed on 3 March 2016).
-
Baylor Miraca Adult Screening Exome Sequencing
-
-
-
56
-
-
84899808119
-
From genetic counseling to "genomic counseling"
-
[CrossRef] [PubMed]
-
Ormond, K.E. From genetic counseling to "genomic counseling". Mol. Genet. Genomic Med. 2013, 1, 189-193. [CrossRef] [PubMed]
-
(2013)
Mol. Genet. Genomic Med
, vol.1
, pp. 189-193
-
-
Ormond, K.E.1
-
57
-
-
84938515952
-
Looking for trouble: Preventive Genomic sequencing in the general population and the role of patient choice
-
[CrossRef] [PubMed]
-
Lázaro-Muñoz, G.; Conley, J.M.; Davis, A.M.; Van Riper, M.;Walker, R.L.; Juengst, E.T. Looking for trouble: Preventive Genomic sequencing in the general population and the role of patient choice. Am. J. Bioeth. 2015, 15, 3-14. [CrossRef] [PubMed]
-
(2015)
Am. J. Bioeth
, vol.15
, pp. 3-14
-
-
Lázaro-Muñoz, G.1
Conley, J.M.2
Davis, A.M.3
Van Riper, M.4
Walker, R.L.5
Juengst, E.T.6
-
58
-
-
84867214722
-
Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research
-
[CrossRef] [PubMed]
-
Facio, F.M.; Sapp, J.C.; Linn, A.; Biesecker, L.G. Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research. BMC Med. Genomics 2012, 5, 45. [CrossRef] [PubMed]
-
(2012)
BMC Med. Genomics
, vol.5
, pp. 45
-
-
Facio, F.M.1
Sapp, J.C.2
Linn, A.3
Biesecker, L.G.4
-
59
-
-
81555203460
-
Motivators for participation in a whole-genome sequencing study: Implications for translational genomics research
-
[CrossRef] [PubMed]
-
Facio, F.M.; Brooks, S.; Loewenstein, J.; Green, S.; Biesecker, L.G.; Biesecker, B.B. Motivators for participation in a whole-genome sequencing study: Implications for translational genomics research. Eur. J. Hum. Genet. 2011, 19, 1213-1217. [CrossRef] [PubMed]
-
(2011)
Eur. J. Hum. Genet
, vol.19
, pp. 1213-1217
-
-
Facio, F.M.1
Brooks, S.2
Loewenstein, J.3
Green, S.4
Biesecker, L.G.5
Biesecker, B.B.6
-
60
-
-
84874108148
-
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
-
[CrossRef] [PubMed]
-
Facio, F.M.; Eidem, H.; Fisher, T.; Brooks, S.; Linn, A.; Kaphingst, K.A.; Biesecker, L.G.; Biesecker, B.B. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur. J. Hum. Genet. 2013, 21, 261-265. [CrossRef] [PubMed]
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 261-265
-
-
Facio, F.M.1
Eidem, H.2
Fisher, T.3
Brooks, S.4
Linn, A.5
Kaphingst, K.A.6
Biesecker, L.G.7
Biesecker, B.B.8
-
61
-
-
84947037594
-
Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals
-
[CrossRef] [PubMed]
-
Zierhut, H.; McCarthy Veach, P.; LeRoy, B. Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals. Am. J. Med. Genet. A 2015, 167, 2647-2656. [CrossRef] [PubMed]
-
(2015)
Am. J. Med. Genet. A
, vol.167
, pp. 2647-2656
-
-
Zierhut, H.1
McCarthy Veach, P.2
LeRoy, B.3
-
62
-
-
84958766598
-
Impact of genomic counseling on informed decision-making among ostensibly healthy individuals seeking personal genome sequencing: The HealthSeq project
-
[CrossRef] [PubMed]
-
Suckiel, S.A.; Linderman, M.D.; Sanderson, S.C.; Diaz, G.A.; Melissa Kasarskia, A.W.; Schadt, E.E.; Zinberg, R.E. Impact of genomic counseling on informed decision-making among ostensibly healthy individuals seeking personal genome sequencing: The HealthSeq project. J. Genet. Couns. 2016. [CrossRef] [PubMed]
-
(2016)
J. Genet. Couns
-
-
Suckiel, S.A.1
Linderman, M.D.2
Sanderson, S.C.3
Diaz, G.A.4
Melissa Kasarskia, A.W.5
Schadt, E.E.6
Zinberg, R.E.7
-
63
-
-
84978663467
-
Participants and study decliners' perspectives about the risks of participating in a clinical trial of whole genome sequencing
-
[CrossRef] [PubMed]
-
Robinson, J.O.; Carroll, T.M.; Feuerman, L.Z.; Perry, D.L.; Hoffman-Andrews, L.; Walsh, R.C.; Christensen, K.D.; Green, R.C.; McGuire, A.L. Participants and study decliners' perspectives about the risks of participating in a clinical trial of whole genome sequencing. J. Empir. Res. Hum. Res. Ethics 2016. [CrossRef] [PubMed]
-
(2016)
J. Empir. Res. Hum. Res. Ethics
-
-
Robinson, J.O.1
Carroll, T.M.2
Feuerman, L.Z.3
Perry, D.L.4
Hoffman-Andrews, L.5
Walsh, R.C.6
Christensen, K.D.7
Green, R.C.8
McGuire, A.L.9
-
64
-
-
84921853397
-
GINA, genetic discrimination, and genomic medicine
-
[CrossRef] [PubMed]
-
Green, R.C.; Lautenbach, D.; McGuire, A.L. GINA, genetic discrimination, and genomic medicine. N. Engl. J. Med. 2015, 372, 397-399. [CrossRef] [PubMed]
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 397-399
-
-
Green, R.C.1
Lautenbach, D.2
McGuire, A.L.3
-
65
-
-
84923928478
-
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
-
[CrossRef] [PubMed]
-
McLaughlin, H.M.; Ceyhan-Birsoy, O.; Christensen, K.D.; Kohane, I.S.; Krier, J.; Lane,W.J.; Lautenbach, D.; Lebo, M.S.; Machini, K.; MacRae, C.A.; et al. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med. Genet. 2014, 15, 134. [CrossRef] [PubMed]
-
(2014)
BMC Med. Genet
, vol.15
, pp. 134
-
-
McLaughlin, H.M.1
Ceyhan-Birsoy, O.2
Christensen, K.D.3
Kohane, I.S.4
Krier, J.5
Lane, W.J.6
Lautenbach, D.7
Lebo, M.S.8
Machini, K.9
MacRae, C.A.10
-
66
-
-
84984914666
-
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
-
[CrossRef] [PubMed]
-
Johnston, J.J.; Lewis, K.L.; Ng, D.; Singh, L.N.; Wynter, J.; Brewer, C.; Brooks, B.P.; Brownell, I.; Candotti, F.; Gonsalves, S.G.; et al. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am. J. Hum. Genet. 2015, 96, 913-925. [CrossRef] [PubMed]
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 913-925
-
-
Johnston, J.J.1
Lewis, K.L.2
Ng, D.3
Singh, L.N.4
Wynter, J.5
Brewer, C.6
Brooks, B.P.7
Brownell, I.8
Candotti, F.9
Gonsalves, S.G.10
-
67
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
[CrossRef] [PubMed]
-
Johnston, J.J.; Rubinstein, W.S.; Facio, F.M.; Ng, D.; Singh, L.N.; Teer, J.K.; Mullikin, J.C.; Biesecker, L.G. 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. [CrossRef] [PubMed]
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
68
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
[CrossRef] [PubMed]
-
Dorschner, M.O.; Amendola, L.M.; Turner, E.H.; Robertson, P.D.; Shirts, B.H.; Gallego, C.J.; Bennett, R.L.; Jones, K.L.; Tokita, M.J.; Bennett, J.T.; et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am. J. Hum. Genet. 2013, 93, 631-640. [CrossRef] [PubMed]
-
(2013)
Am. J. Hum. Genet
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
-
69
-
-
84937547912
-
Secondary findings and carrier test frequencies in a large multiethnic sample
-
[CrossRef] [PubMed]
-
Gambin, T.; Jhangiani, S.N.; Below, J.E.; Campbell, I.M.; Wiszniewski, W.; Muzny, D.M.; Staples, J.; Morrison, A.C.; Bainbridge, M.N.; Penney, S.; et al. Secondary findings and carrier test frequencies in a large multiethnic sample. Genome Med. 2015, 7, 54. [CrossRef] [PubMed]
-
(2015)
Genome Med
, vol.7
, pp. 54
-
-
Gambin, T.1
Jhangiani, S.N.2
Below, J.E.3
Campbell, I.M.4
Wiszniewski, W.5
Muzny, D.M.6
Staples, J.7
Morrison, A.C.8
Bainbridge, M.N.9
Penney, S.10
-
70
-
-
84864341757
-
A public resource facilitating clinical use of genomes
-
[CrossRef] [PubMed]
-
Ball, M.P.; Thakuria, J.V.; Zaranek, A.W.; Clegg, T.; Rosenbaum, A.M.; Wu, X.; Angrist, M.; Bhak, J.; Bobe, J.; Callow, M.J.; et al. A public resource facilitating clinical use of genomes. Proc. Natl. Acad. Sci. USA 2012, 109, 11920-11927. [CrossRef] [PubMed]
-
(2012)
Proc. Natl. Acad. Sci. USA
, vol.109
, pp. 11920-11927
-
-
Ball, M.P.1
Thakuria, J.V.2
Zaranek, A.W.3
Clegg, T.4
Rosenbaum, A.M.5
Wu, X.6
Angrist, M.7
Bhak, J.8
Bobe, J.9
Callow, M.J.10
-
71
-
-
85022202818
-
Participant use and communication of findings from exome sequencing: A mixed-methods study
-
[CrossRef] [PubMed]
-
Lewis, K.L.; Hooker, G.W.; Connors, P.D.; Hyams, T.C.; Wright, M.F.; Caldwell, S.; Biesecker, L.G.; Biesecker, B.B. Participant use and communication of findings from exome sequencing: A mixed-methods study. Genet. Med. 2015. [CrossRef] [PubMed]
-
(2015)
Genet. Med
-
-
Lewis, K.L.1
Hooker, G.W.2
Connors, P.D.3
Hyams, T.C.4
Wright, M.F.5
Caldwell, S.6
Biesecker, L.G.7
Biesecker, B.B.8
-
72
-
-
84938930938
-
How do students react to analyzing their own genomes in a whole-genome sequencing course? Outcomes of a longitudinal cohort study
-
[CrossRef] [PubMed]
-
Sanderson, S.C.; Linderman, M.D.; Zinberg, R.; Bashir, A.; Kasarskis, A.; Zweig, M.; Suckiel, S.; Shah, H.; Mahajan, M.; Diaz, G.A.; et al. How do students react to analyzing their own genomes in a whole-genome sequencing course? Outcomes of a longitudinal cohort study. Genet. Med. 2015, 17, 866-874. [CrossRef] [PubMed]
-
(2015)
Genet. Med
, vol.17
, pp. 866-874
-
-
Sanderson, S.C.1
Linderman, M.D.2
Zinberg, R.3
Bashir, A.4
Kasarskis, A.5
Zweig, M.6
Suckiel, S.7
Shah, H.8
Mahajan, M.9
Diaz, G.A.10
-
73
-
-
84878354128
-
Point-counterpoint. Ethics and genomic incidental findings
-
[CrossRef] [PubMed]
-
McGuire, A.L.; Joffe, S.; Koenig, B.A.; Biesecker, B.B.; McCullough, L.B.; Blumenthal-Barby, J.S.; Caulfield, T.; Terry, S.F.; Green, R.C. Point-counterpoint. Ethics and genomic incidental findings. Science 2013, 340, 1047-1048. [CrossRef] [PubMed]
-
(2013)
Science
, vol.340
, pp. 1047-1048
-
-
McGuire, A.L.1
Joffe, S.2
Koenig, B.A.3
Biesecker, B.B.4
McCullough, L.B.5
Blumenthal-Barby, J.S.6
Caulfield, T.7
Terry, S.F.8
Green, R.C.9
-
74
-
-
84880423883
-
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
-
[CrossRef] [PubMed]
-
Green, R.C.; Lupski, J.R.; Biesecker, L.G. Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional. JAMA 2013, 310, 365-366. [CrossRef] [PubMed]
-
(2013)
JAMA
, vol.310
, pp. 365-366
-
-
Green, R.C.1
Lupski, J.R.2
Biesecker, L.G.3
-
75
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk!
-
[CrossRef] [PubMed]
-
Burke, W.; Antommaria, A.H.M.; Bennett, R.; Botkin, J.; Clayton, E.W.; Henderson, G.E.; Holm, I.A.; Jarvik, G.P.; Khoury, M.J.; Knoppers, B.M.; et al. Recommendations for returning genomic incidental findings? We need to talk! Genet. Med. 2013, 15, 854-859. [CrossRef] [PubMed]
-
(2013)
Genet. Med
, vol.15
, pp. 854-859
-
-
Burke, W.1
Antommaria, A.H.M.2
Bennett, R.3
Botkin, J.4
Clayton, E.W.5
Henderson, G.E.6
Holm, I.A.7
Jarvik, G.P.8
Khoury, M.J.9
Knoppers, B.M.10
-
76
-
-
84929649852
-
How to know when physicians are ready for genomic medicine
-
[CrossRef] [PubMed]
-
Vassy, J.L.; Korf, B.R.; Green, R.C. How to know when physicians are ready for genomic medicine. Sci. Transl. Med. 2015, 7, 287fs19. [CrossRef] [PubMed]
-
(2015)
Sci. Transl. Med
, vol.7
-
-
Vassy, J.L.1
Korf, B.R.2
Green, R.C.3
-
77
-
-
85022205788
-
Are physicians prepared for whole genome sequencing? A qualitative analysis
-
[CrossRef] [PubMed]
-
Christensen, K.D.; Vassy, J.L.; Jamal, L.; Lehmann, L.S.; Slashinski, M.J.; Perry, D.L.; Robinson, J.O.; Blumenthal-Barby, J.; Feuerman, L.Z.; Murray, M.F.; et al. Are physicians prepared for whole genome sequencing? A qualitative analysis. Clin. Genet. 2015. [CrossRef] [PubMed]
-
(2015)
Clin. Genet
-
-
Christensen, K.D.1
Vassy, J.L.2
Jamal, L.3
Lehmann, L.S.4
Slashinski, M.J.5
Perry, D.L.6
Robinson, J.O.7
Blumenthal-Barby, J.8
Feuerman, L.Z.9
Murray, M.F.10
-
78
-
-
84927510532
-
Translational research is a key to nongeneticist physicians' genomics education
-
[CrossRef] [PubMed]
-
Feero,W.G.; Manolio, T.A.; Khoury, M.J. Translational research is a key to nongeneticist physicians' genomics education. Genet. Med. 2014, 16, 871-873. [CrossRef] [PubMed]
-
(2014)
Genet. Med
, vol.16
, pp. 871-873
-
-
Feero, W.G.1
Manolio, T.A.2
Khoury, M.J.3
-
79
-
-
84902271056
-
Return of genomic results to research participants: The floor, the ceiling, and the choices in between
-
[CrossRef] [PubMed]
-
Jarvik, G.P.; Amendola, L.M.; Berg, J.S.; Brothers, K.; Clayton, E.W.; Chung, W.; Evans, B.J.; Evans, J.P.; Fullerton, S.M.; Gallego, C.J.; et al. Return of genomic results to research participants: The floor, the ceiling, and the choices in between. Am. J. Hum. Genet. 2014, 94, 818-826. [CrossRef] [PubMed]
-
(2014)
Am. J. Hum. Genet
, vol.94
, pp. 818-826
-
-
Jarvik, G.P.1
Amendola, L.M.2
Berg, J.S.3
Brothers, K.4
Clayton, E.W.5
Chung, W.6
Evans, B.J.7
Evans, J.P.8
Fullerton, S.M.9
Gallego, C.J.10
-
80
-
-
84939171494
-
How behavioral economics can help to avoid "The last mile problem" in whole genome sequencing
-
[CrossRef] [PubMed]
-
Blumenthal-Barby, J.S.; McGuire, A.L.; Green, R.C.; Ubel, P.A. How behavioral economics can help to avoid "The last mile problem" in whole genome sequencing. Genome Med. 2015, 7, 3. [CrossRef] [PubMed]
-
(2015)
Genome Med
, vol.7
, pp. 3
-
-
Blumenthal-Barby, J.S.1
McGuire, A.L.2
Green, R.C.3
Ubel, P.A.4
-
81
-
-
84875488700
-
The economics of genomic medicine: Insights from the IOM Roundtable on Translating Genomic-Based Research for Health
-
[CrossRef] [PubMed]
-
Feero, W.G.; Wicklund, C.; Veenstra, D.L. The economics of genomic medicine: Insights from the IOM Roundtable on Translating Genomic-Based Research for Health. JAMA 2013, 309, 1235-1236. [CrossRef] [PubMed]
-
(2013)
JAMA
, vol.309
, pp. 1235-1236
-
-
Feero, W.G.1
Wicklund, C.2
Veenstra, D.L.3
-
82
-
-
85022228493
-
Predispositional genome sequencing in healthy adults: Findings from the PeopleSeq Study
-
Pittsburgh, PA, USA, 21-24 October
-
Helm, M.; Hambuch, T.; Ball, M.; Church, G.; Linderman, M.; Pearson, N.; Roberts, J.S.; Sanderson, S.; Schadt, E.; Green, R.C. Predispositional genome sequencing in healthy adults: Findings from the PeopleSeq Study. In Proceedings the 34th Annual Education Conference of the National Society of Genetic Counselors, Pittsburgh, PA, USA, 21-24 October 2015.
-
(2015)
Proceedings the 34th Annual Education Conference of the National Society of Genetic Counselors
-
-
Helm, M.1
Hambuch, T.2
Ball, M.3
Church, G.4
Linderman, M.5
Pearson, N.6
Roberts, J.S.7
Sanderson, S.8
Schadt, E.9
Green, R.C.10
-
83
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
[CrossRef] [PubMed]
-
Rehm, H.L.; Bale, S.J.; Bayrak-Toydemir, P.; Berg, J.S.; Brown, K.K.; Deignan, J.L.; Friez, M.J.; Funke, B.H.; Hegde, M.R.; Lyon, E. ACMG clinical laboratory standards for next-generation sequencing. Genet. Med. 2013, 15, 733-747. [CrossRef] [PubMed]
-
(2013)
Genet. Med
, vol.15
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
Berg, J.S.4
Brown, K.K.5
Deignan, J.L.6
Friez, M.J.7
Funke, B.H.8
Hegde, M.R.9
Lyon, E.10
-
84
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
[CrossRef] [PubMed]
-
Richards, S.; Aziz, N.; Bale, S.; Bick, D.; Das, S.; Gastier-Foster, J.; Grody, W.W.; Hegde, M.; Lyon, E.; Spector, E.; et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 2015, 17, 405-424. [CrossRef] [PubMed]
-
(2015)
Genet. Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
-
85
-
-
84966639523
-
Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research (CSER) consortium
-
Amendola, L.M.; Jarvik, G.P.; Leo, M.; McLaughlin, H.M.; Akkari, H.; Amaral, M.; Berg, J.S.; Biswas, S.; Bowling, K.; Conlin, L.; et al. Performance of ACMG/AMP variant interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research (CSER) consortium. Am. J. Hum. Genet. 2016. in press.
-
(2016)
Am. J. Hum. Genet
-
-
Amendola, L.M.1
Jarvik, G.P.2
Leo, M.3
McLaughlin, H.M.4
Akkari, H.5
Amaral, M.6
Berg, J.S.7
Biswas, S.8
Bowling, K.9
Conlin, L.10
-
86
-
-
84930526399
-
ClinGen-The Clinical Genome Resource
-
[CrossRef] [PubMed]
-
Rehm, H.L.; Berg, J.S.; Brooks, L.D.; Bustamante, C.D.; Evans, J.P.; Landrum, M.J.; Ledbetter, D.H.; Maglott, D.R.; Martin, C.L.; Nussbaum, R.L.; et al. ClinGen-The Clinical Genome Resource. N. Engl. J. Med. 2015, 372, 2235-2242. [CrossRef] [PubMed]
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 2235-2242
-
-
Rehm, H.L.1
Berg, J.S.2
Brooks, L.D.3
Bustamante, C.D.4
Evans, J.P.5
Landrum, M.J.6
Ledbetter, D.H.7
Maglott, D.R.8
Martin, C.L.9
Nussbaum, R.L.10
-
87
-
-
84992081328
-
Assessing the Costs and Cost-Effectiveness of Genomic Sequencing
-
[CrossRef] [PubMed]
-
Christensen, K.D.; Dukhovny, D.; Siebert, U.; Green, R.C. Assessing the Costs and Cost-Effectiveness of Genomic Sequencing. J. Pers. Med. 2015, 5, 470-486. [CrossRef] [PubMed]
-
(2015)
J. Pers. Med
, vol.5
, pp. 470-486
-
-
Christensen, K.D.1
Dukhovny, D.2
Siebert, U.3
Green, R.C.4
|