Clinical Genome Resource Explained

The Clinical Genome Resource (ClinGen) is an initiative developed by the National Human Genome Research Institute (NHGRI) with the aim of creating a knowledge base of the clinical relevance of genes and variants for use in precision medicine and research. It was founded by the NHGRI in 2013, and is now funded by the National Institutes of Health (NIH). It is currently developing a resource that aims to define the relevance of genes and variants for utilisation clinically in precision medicine and other research purposes.[1] [2] [3]

Notes and References

  1. Web site: Clinical Genome Resource . 2022-03-29 . U.S. National Institutes of Health (NIH)-funded . ClinGen .
  2. Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS . 6 . ClinGen--the Clinical Genome Resource . The New England Journal of Medicine . 372 . 23 . 2235–2242 . June 2015 . 26014595 . 4474187 . 10.1056/NEJMsr1406261 .
  3. Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS . 6 . Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future . Genetics in Medicine . 21 . 4 . 987–993 . April 2019 . 30181607 . 10.1038/s41436-018-0267-2 . free . 6401338 .

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