Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Teri A. Manolio; Douglas M. Fowler; Lea M. Starita; Melissa A. Haendel; Daniel G. MacArthur; Leslie G. Biesecker; Elizabeth Worthey; Rex L. Chisholm; Eric D. Green; Howard J. Jacob; Howard L. McLeod; Dan Roden; Laura Lyman Rodriguez; Marc S. Williams; Gregory M. Cooper; Nancy J. Cox; Gail E. Herman; Stephen Kingsmore; Cecilia Lo; Cathleen Lutz; Calum A. MacRae; Robert L. Nussbaum; Jose M. Ordovas; Erin M. Ramos; Peter N. Robinson; Wendy S. Rubinstein; Christine Seidman; Barbara E. Stranger; Haoyi Wang; Monte Westerfield; Carol Bult

doi:10.1016/j.cell.2017.03.005

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Teri A. Manolio^*, Douglas M. Fowler, Lea M. Starita, Melissa A. Haendel, Daniel G. MacArthur, Leslie G. Biesecker, Elizabeth Worthey, Rex L. Chisholm, Eric D. Green, Howard J. Jacob, Howard L. McLeod, Dan Roden, Laura Lyman Rodriguez, Marc S. Williams, Gregory M. Cooper, Nancy J. Cox, Gail E. Herman, Stephen Kingsmore, Cecilia Lo, Cathleen LutzCalum A. MacRae, Robert L. Nussbaum, Jose M. Ordovas, Erin M. Ramos, Peter N. Robinson, Wendy S. Rubinstein, Christine Seidman, Barbara E. Stranger, Haoyi Wang, Monte Westerfield, Carol Bult

^*Corresponding author for this work

Research output: Contribution to journal › Comment/debate › peer-review

88 Scopus citations

Abstract

Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.

Original language	English (US)
Pages (from-to)	6-12
Number of pages	7
Journal	Cell
Volume	169
Issue number	1
DOIs	https://doi.org/10.1016/j.cell.2017.03.005
State	Published - Mar 23 2017

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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Manolio, T. A., Fowler, D. M., Starita, L. M., Haendel, M. A., MacArthur, D. G., Biesecker, L. G., Worthey, E., Chisholm, R. L., Green, E. D., Jacob, H. J., McLeod, H. L., Roden, D., Rodriguez, L. L., Williams, M. S., Cooper, G. M., Cox, N. J., Herman, G. E., Kingsmore, S., Lo, C., ... Bult, C. (2017). Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research. Cell, 169(1), 6-12. https://doi.org/10.1016/j.cell.2017.03.005

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title = "Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research",

abstract = "Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.",

author = "Manolio, {Teri A.} and Fowler, {Douglas M.} and Starita, {Lea M.} and Haendel, {Melissa A.} and MacArthur, {Daniel G.} and Biesecker, {Leslie G.} and Elizabeth Worthey and Chisholm, {Rex L.} and Green, {Eric D.} and Jacob, {Howard J.} and McLeod, {Howard L.} and Dan Roden and Rodriguez, {Laura Lyman} and Williams, {Marc S.} and Cooper, {Gregory M.} and Cox, {Nancy J.} and Herman, {Gail E.} and Stephen Kingsmore and Cecilia Lo and Cathleen Lutz and MacRae, {Calum A.} and Nussbaum, {Robert L.} and Ordovas, {Jose M.} and Ramos, {Erin M.} and Robinson, {Peter N.} and Rubinstein, {Wendy S.} and Christine Seidman and Stranger, {Barbara E.} and Haoyi Wang and Monte Westerfield and Carol Bult",

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doi = "10.1016/j.cell.2017.03.005",

language = "English (US)",

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Manolio, TA, Fowler, DM, Starita, LM, Haendel, MA, MacArthur, DG, Biesecker, LG, Worthey, E, Chisholm, RL, Green, ED, Jacob, HJ, McLeod, HL, Roden, D, Rodriguez, LL, Williams, MS, Cooper, GM, Cox, NJ, Herman, GE, Kingsmore, S, Lo, C, Lutz, C, MacRae, CA, Nussbaum, RL, Ordovas, JM, Ramos, EM, Robinson, PN, Rubinstein, WS, Seidman, C, Stranger, BE, Wang, H, Westerfield, M & Bult, C 2017, 'Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research', Cell, vol. 169, no. 1, pp. 6-12. https://doi.org/10.1016/j.cell.2017.03.005

TY - JOUR

T1 - Bedside Back to Bench

T2 - Building Bridges between Basic and Clinical Genomic Research

AU - Manolio, Teri A.

AU - Fowler, Douglas M.

AU - Starita, Lea M.

AU - Haendel, Melissa A.

AU - MacArthur, Daniel G.

AU - Biesecker, Leslie G.

AU - Worthey, Elizabeth

AU - Chisholm, Rex L.

AU - Green, Eric D.

AU - Jacob, Howard J.

AU - McLeod, Howard L.

AU - Roden, Dan

AU - Rodriguez, Laura Lyman

AU - Williams, Marc S.

AU - Cooper, Gregory M.

AU - Cox, Nancy J.

AU - Herman, Gail E.

AU - Kingsmore, Stephen

AU - Lo, Cecilia

AU - Lutz, Cathleen

AU - MacRae, Calum A.

AU - Nussbaum, Robert L.

AU - Ordovas, Jose M.

AU - Ramos, Erin M.

AU - Robinson, Peter N.

AU - Rubinstein, Wendy S.

AU - Seidman, Christine

AU - Stranger, Barbara E.

AU - Wang, Haoyi

AU - Westerfield, Monte

AU - Bult, Carol

PY - 2017/3/23

Y1 - 2017/3/23

N2 - Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.

AB - Genome sequencing has revolutionized the diagnosis of genetic diseases. Close collaborations between basic scientists and clinical genomicists are now needed to link genetic variants with disease causation. To facilitate such collaborations, we recommend prioritizing clinically relevant genes for functional studies, developing reference variant-phenotype databases, adopting phenotype description standards, and promoting data sharing.

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JF - Cell

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Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Abstract

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