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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genomic medicine implementation protocols in the PhenX Toolkit: tools for standardized data collection.

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The PhenX Toolkit now includes 15 standardized measurement protocols for genomic medicine implementation research. This facilitates consistent data collection and cross-study analysis in this growing field.

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Area of Science:

  • Genomic Medicine
  • Implementation Science
  • Bioinformatics

Background:

  • The PhenX Toolkit is an online resource for standardized measurement protocols in human participant research.
  • Genomic medicine implementation was identified as a critical new research domain by the PhenX Steering Committee.

Purpose of the Study:

  • To identify and select well-established measurement protocols for the genomic medicine implementation research domain.
  • To integrate these protocols into the PhenX Toolkit for broader research use.

Main Methods:

  • A seven-member expert Working Group convened to identify relevant measurement protocols.
  • The established PhenX consensus process was employed for protocol selection.
  • Protocols with empirical evidence of validity were prioritized.

Main Results:

  • Fifteen measurement protocols were recommended for inclusion in the PhenX Toolkit.
  • National Institutes of Health consortia, particularly NHGRI, were instrumental in identifying protocols.
  • Protocols were selected based on established utility and rigorous development processes.

Conclusions:

  • The release of these 15 protocols in September 2020 enables standardized data collection for genomic medicine implementation research.
  • This standardization will facilitate cross-study analyses and advance the field of genomic medicine implementation.