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Updated: May 28, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genomics reaches the clinic: from basic discoveries to clinical impact
1National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Cell
|October 4, 2011
Summary
Basic science research is key to understanding the genetic basis of human diseases. Collaboration between lab, computational, and clinical experts is vital for translating genomic discoveries into improved human health.
Area of Science:
- Genomics and Human Disease Research
Background:
- Basic science research offers significant opportunities to understand the genetic underpinnings of human diseases.
- Advancements in genomics are critical for medical progress.
Purpose of the Study:
- To highlight the importance of interdisciplinary collaboration in translating genomic discoveries into improved human health.
- To emphasize the role of basic science in advancing medical understanding.
Main Methods:
- This study emphasizes the need for integration of laboratory, computational, and clinical research approaches.
Main Results:
- Genomic discoveries hold immense potential for advancing medical science.
- Interactions among diverse research communities are essential for realizing this potential.
Conclusions:
- Close collaboration among laboratory, computational, and clinical researchers is crucial.
- Translating genomic discoveries effectively will ultimately improve human health.
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