Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

William S Oetting; Peter N Robinson; Marc S Greenblatt; Richard G Cotton; Tim Beck; John C Carey; Sandra C Doelken; Marta Girdea; Tudor Groza; Carol M Hamilton; Ada Hamosh; Berit Kerner; Jacqueline A L Macarthur; Donna R Maglott; Barend Mons; Heidi L Rehm; Paul N Schofield; Beverly A Searle; Damian Smedley; Cynthia L Smith; Inge Thomsen Bernstein; Andreas Zankl; Eric Y Zhao

doi:10.1002/humu.22293

Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

William S Oetting, Peter N Robinson, Marc S Greenblatt, Richard G Cotton, Tim Beck, John C Carey, Sandra C Doelken, Marta Girdea, Tudor Groza, Carol M Hamilton, Ada Hamosh, Berit Kerner, Jacqueline A L Macarthur, Donna R Maglott, Barend Mons, Heidi L Rehm, Paul N Schofield, Beverly A Searle, Damian Smedley, Cynthia L SmithInge Thomsen Bernstein, Andreas Zankl, Eric Y Zhao

20 Citationer (Scopus)

Abstract

A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project". Understanding the genetic contribution to both rare single gene "Mendelian" disorders and to more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, the many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort towards this important goal.

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	34
Udgave nummer	4
Sider (fra-til)	661-666
Antal sider	6
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.22293
Status	Udgivet - apr. 2013

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10.1002/humu.22293

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Oetting, W. S., Robinson, P. N., Greenblatt, M. S., Cotton, R. G., Beck, T., Carey, J. C., Doelken, S. C., Girdea, M., Groza, T., Hamilton, C. M., Hamosh, A., Kerner, B., Macarthur, J. A. L., Maglott, D. R., Mons, B., Rehm, H. L., Schofield, P. N., Searle, B. A., Smedley, D., ... Zhao, E. Y. (2013). Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project. Human Mutation, 34(4), 661-666. https://doi.org/10.1002/humu.22293

Oetting, WS, Robinson, PN, Greenblatt, MS, Cotton, RG, Beck, T, Carey, JC, Doelken, SC, Girdea, M, Groza, T, Hamilton, CM, Hamosh, A, Kerner, B, Macarthur, JAL, Maglott, DR, Mons, B, Rehm, HL, Schofield, PN, Searle, BA, Smedley, D, Smith, CL, Bernstein, IT, Zankl, A & Zhao, EY 2013, 'Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project', Human Mutation, bind 34, nr. 4, s. 661-666. https://doi.org/10.1002/humu.22293

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title = "Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project",

abstract = "A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was {"}Getting Ready for the Human Phenome Project{"}. Understanding the genetic contribution to both rare single gene {"}Mendelian{"} disorders and to more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, the many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort towards this important goal.",

author = "Oetting, {William S} and Robinson, {Peter N} and Greenblatt, {Marc S} and Cotton, {Richard G} and Tim Beck and Carey, {John C} and Doelken, {Sandra C} and Marta Girdea and Tudor Groza and Hamilton, {Carol M} and Ada Hamosh and Berit Kerner and Macarthur, {Jacqueline A L} and Maglott, {Donna R} and Barend Mons and Rehm, {Heidi L} and Schofield, {Paul N} and Searle, {Beverly A} and Damian Smedley and Smith, {Cynthia L} and Bernstein, {Inge Thomsen} and Andreas Zankl and Zhao, {Eric Y}",

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language = "English",

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AU - Oetting, William S

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AU - Greenblatt, Marc S

AU - Cotton, Richard G

AU - Beck, Tim

AU - Carey, John C

AU - Doelken, Sandra C

AU - Girdea, Marta

AU - Groza, Tudor

AU - Hamilton, Carol M

AU - Hamosh, Ada

AU - Kerner, Berit

AU - Macarthur, Jacqueline A L

AU - Maglott, Donna R

AU - Mons, Barend

AU - Rehm, Heidi L

AU - Schofield, Paul N

AU - Searle, Beverly A

AU - Smedley, Damian

AU - Smith, Cynthia L

AU - Bernstein, Inge Thomsen

AU - Zankl, Andreas

AU - Zhao, Eric Y

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Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

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