Personal genomes in progress: from the Human Genome Project to the Personal Genome Project
The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007- even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polymorphisms, this has caused a sign...
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Published in | Dialogues in clinical neuroscience Vol. 12; no. 1; pp. 47 - 60 |
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Main Authors | , , , , , , , |
Format | Journal Article |
Language | English |
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Taylor & Francis
2010
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Abstract | The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007- even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polymorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics. |
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AbstractList | The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007--even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polylmorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics. The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007--even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polylmorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics.The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007--even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polylmorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics. The cost of a diploid human genome sequence has dropped from about $70M to $2000 since 2007- even as the standards for redundancy have increased from 7x to 40x in order to improve call rates. Coupled with the low return on investment for common single-nucleotide polymorphisms, this has caused a significant rise in interest in correlating genome sequences with comprehensive environmental and trait data (GET). The cost of electronic health records, imaging, and microbial, immunological, and behavioral data are also dropping quickly. Sharing such integrated GET datasets and their interpretations with a diversity of researchers and research subjects highlights the need for informed-consent models capable of addressing novel privacy and other issues, as well as for flexible data-sharing resources that make materials and data available with minimum restrictions on use. This article examines the Personal Genome Project's effort to develop a GET database as a public genomics resource broadly accessible to both researchers and research participants, while pursuing the highest standards in research ethics. |
Author | Church (Co-last author), George M. Angrist, Misha Vorhaus, Daniel B. R. Hoehe (Co-last author), Margret V. Thakuria, Joseph Bobe (Co-first author), Jason Lunshof (Co-first author), Jeantine E. Aach, John |
Author_xml | – sequence: 1 givenname: Jeantine E. surname: Lunshof (Co-first author) fullname: Lunshof (Co-first author), Jeantine E. – sequence: 2 givenname: Jason surname: Bobe (Co-first author) fullname: Bobe (Co-first author), Jason email: jason@personalgenomes.org – sequence: 3 givenname: John surname: Aach fullname: Aach, John – sequence: 4 givenname: Misha surname: Angrist fullname: Angrist, Misha – sequence: 5 givenname: Joseph surname: V. Thakuria fullname: V. Thakuria, Joseph – sequence: 6 givenname: Daniel B. surname: Vorhaus fullname: Vorhaus, Daniel B. – sequence: 7 givenname: Margret surname: R. Hoehe (Co-last author) fullname: R. Hoehe (Co-last author), Margret – sequence: 8 givenname: George M. surname: Church (Co-last author) fullname: Church (Co-last author), George M. |
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SubjectTerms | Adult and adolescent clinical studies Basic Research Biological and medical sciences Computational Biology - methods Databases, Genetic - economics Databases, Genetic - statistics & numerical data DNA sequencing technology Electronic Health Records - economics Electronic Health Records - statistics & numerical data ELSI envirome Environment Genetic Privacy Genome, Human - physiology GET data set Human Genome Project - economics Humans Medical sciences microbiome Miscellaneous open consent Personal Genome Project personal genomics phenome Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry public genome whole-genome sequencing |
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