A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

Main|Search|PHGKB




Last Posted: Aug 03, 2018

---

• A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health
  MJ Khoury et al, PLOS Medicine, August 2, 2018
• A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
  MJ Khoury, CDC Blog, August 2, 2018
• The case for population screening for BRCA, Lynch Syndrome, and FH 
  Color Genomics, YouTube, June 2018
• BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.
  Kowalik Artur et al. PloS one 2018 13(7) e0201086
• Development of a Hydroxyurea Decision Aid for Parents of Children With Sickle Cell Anemia.
  Crosby Lori E et al. Journal of pediatric hematology/oncology 2018 Jul
• FH Foundation Announces Consensus Statement on Genetic Testing for Familial Hypercholesterolemia (FH)
  The FH Foundation, July 30, 2018
• Genetics and genomic medicine in Argentina.
  Vishnopolska Sebastián A et al. Molecular genetics & genomic medicine 2018 Jul
• Implementation of Pharmacogenetics at Cincinnati Children's Hospital Medical Center: Lessons Learned Over 14 Years of Personalizing Medicine.
  Ramsey Laura B et al. Clinical pharmacology and therapeutics 2018 Jul
• Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
  Chyra Kufova Zuzana et al. Journal of clinical pathology 2018 Aug 71(8) 687-694
• Overview of Precision Oncology Trials: Challenges and Opportunities.
  Fountzilas Elena et al. Expert review of clinical pharmacology 2018 Jul

more