Avances en el genoma personal: Desde el Proyecto Genoma Humano al Proyecto Genoma Personal

Translated title of the contribution: Personal genomes in progress: From the human genome project to the Personal Genome Project

Jeantine E. Lunshof, Jason Bobe, John Aach, Misha Angrist, Joseph V. Thakuria, Daniel B. Vorhaus, Margret R. Hoehe, George M. Church

Research output: Contribution to journalArticlepeer-review

69 Scopus citations

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 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.

Translated title of the contributionPersonal genomes in progress: From the human genome project to the Personal Genome Project
Original languageSpanish
Pages (from-to)44-57
Number of pages14
JournalDialogues in Clinical Neuroscience
Volume12
Issue number1
StatePublished - 2010
Externally publishedYes

Keywords

  • DNA sequencing technology
  • ELSI
  • Envirome
  • GET data set
  • Microbiome
  • Open consent
  • Personal Genome Project
  • Personal genomics
  • Phenome
  • Public genome
  • Wholegenome sequencing

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