There has been much progress in genomics in the ten years since a draft sequence of the human genome was published. Opportunities for understanding health and disease are now unprecedented, as ...advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome and about the genetic contributions to human health and disease. Here we articulate a 2011 vision for the future of genomics research and describe the path towards an era of genomic medicine.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision for the future of human genomics, the product of an extensive, multi-year engagement with numerous ...research, medical, educational, and public communities. The theme of this 2020 vision—The Forefront of Genomics—reflects NHGRI’s critical role in providing responsible stewardship of the field of human genomics, especially as genomic methods and approaches become increasingly disseminated throughout biomedicine. Embracing that role, the new NHGRI strategic vision features a set of guiding principles and values that provide an ethical and moral framework for the field. One principle emphasizes the need to champion a diverse genomics workforce because “the promise of genomics cannot be fully achieved without attracting, developing, and retaining a diverse workforce, which includes individuals from groups that are currently underrepresented in the genomics enterprise.” To build on the remarkable metamorphosis of the field over the last three decades, enhancing the diversity of the genomics workforce must be embraced as an urgent priority. Toward that end, NHGRI recently developed an “action agenda” for training, employing, and retaining a genomics workforce that reflects the diversity of the US population.
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision for the future of human genomics, the product of an extensive, multi-year engagement with numerous research, medical, educational, and public communities. The theme of this 2020 vision—The Forefront of Genomics—reflects NHGRI’s critical role in providing responsible stewardship of the field of human genomics, especially as genomic methods and approaches become increasingly disseminated throughout biomedicine. Embracing that role, the new NHGRI strategic vision features a set of guiding principles and values that provide an ethical and moral framework for the field. One principle emphasizes the need to champion a diverse genomics workforce because “the promise of genomics cannot be fully achieved without attracting, developing, and retaining a diverse workforce, which includes individuals from groups that are currently underrepresented in the genomics enterprise.” To build on the remarkable metamorphosis of the field over the last three decades, enhancing the diversity of the genomics workforce must be embraced as an urgent priority. Toward that end, NHGRI recently developed an “action agenda” for training, employing, and retaining a genomics workforce that reflects the diversity of the US population.
The 2020 strategic vision for human genomics, written by the National Human Genome Research Institute (NHGRI), was punctuated by a set of provocatively audacious “bold predictions for human genomics ...by 2030.” Starting here, these will be unpacked and discussed in an upcoming series in the American Journal of Human Genetics.
The 2020 strategic vision for human genomics, written by the National Human Genome Research Institute (NHGRI), was punctuated by a set of provocatively audacious “bold predictions for human genomics by 2030.” Starting here, these will be unpacked and discussed in an upcoming series in the American Journal of Human Genetics.
Biomedical research has and will continue to generate large amounts of data (termed 'big data') in many formats and at all levels. Consequently, there is an increasing need to better understand and ...mine the data to further knowledge and foster new discovery. The National Institutes of Health (NIH) has initiated a Big Data to Knowledge (BD2K) initiative to maximize the use of biomedical big data. BD2K seeks to better define how to extract value from the data, both for the individual investigator and the overall research community, create the analytic tools needed to enhance utility of the data, provide the next generation of trained personnel, and develop data science concepts and tools that can be made available to all stakeholders.
Twenty-five years of big biology Green, Eric D; Watson, James D; Collins, Francis S
Nature (London),
10/2015, Letnik:
526, Številka:
7571
Journal Article
Recenzirano
Odprti dostop
Twenty-five years ago, the newly created US National Center for Human Genome Research (now the National Human Genome Research Institute; NHGRI), which the three of us have each directed, joined ...forces with US and international partners to launch the Human Genome Project (HGP). What happened next represents one of the most historically significant scientific endeavours: a 13-year quest to sequence all three billion base pairs of the human genome.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Defining functional DNA elements in the human genome Kellis, Manolis; Wold, Barbara; Snyderd, Michael P. ...
Proceedings of the National Academy of Sciences - PNAS,
04/2014, Letnik:
111, Številka:
17
Journal Article
Recenzirano
Odprti dostop
With the completion of the human genome sequence, attention turned to identifying and annotating its functional DNA elements. As a complement to genetic and comparative genomics approaches, the ...Encyclopedia of DNA Elements Project was launched to contribute maps of RNA transcripts, transcriptional regulator binding sites, and chromatin states in many cell types. The resulting genome-wide data reveal sites of biochemical activity with high positional resolution and cell type specificity that facilitate studies of gene regulation and interpretation of noncoding variants associated with human disease. However, the biochemically active regions cover a much larger fraction of the genome than do evolutionarily conserved regions, raising the question of whether nonconserved but biochemically active regions are truly functional. Here, we review the strengths and limitations of biochemical, evolutionary, and genetic approaches for defining functional DNA segments, potential sources for the observed differences in estimated genomic coverage, and the biological implications of these discrepancies. We also analyze the relationship between signal intensity, genomic coverage, and evolutionary conservation. Our results reinforce the principle that each approach provides complementary information and that we need to use combinations of all three to elucidate genome function in human biology and disease.
The article discusses the confusion pertaining to the use and interpretation of race, ethnicity, and ancestry data in biomedical research. The need is to understand that imprecise use of race and ...ethnicity data as population descriptors has the potential to miscommunicate the complex relationships among an individual's social identity, ancestry, socioeconomic status, and health, while also perpetuating misguided notions that discrete genetic groups exist. The challenge that scientists and medical journal editors must address is how to report human genomic variation without inappropriately describing racial and ethnic groups as discrete population groups.
PDF
