Genomic medicine [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Aug 29, 2020

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• Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
  AM Bertoli-Avella et al, EJHG, August 28, 2020
• Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children’s Genomic Medicine Consortium
  D Gregornik et al, Pharmacogenetics Journal, August 26, 2020
• The road ahead in genetics and genomics
  AL McGuire et al, Nature Rev Genetics, August 24, 2020
• Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project
  S Pereira et al, Genetics in Medicine, August 18, 2020
• Pharmacogenomics of COVID-19 therapies
  T Takahashi et al, NPJ Genomic Medicine, August 18, 2020
• Cancer genomic medicine in Japan.
  Mano Hiroyuki et al. Proceedings of the Japan Academy. Series B, Physical and biological sciences 2020 96(7) 316-321
• Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes.
  Kuo Chieh-Wen et al. Molecular genetics & genomic medicine 2020 Aug e1455
• Integration of genetic and histopathology data in interpretation of kidney disease.
  Murray Susan L et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2020 Jul 35(7) 1113-1132
• Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
  KN James et al NPJ Genomic Medicine, August 11, 2020
• Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.
  Sabo Aniko et al. Molecular genetics & genomic medicine 2020 Aug e1439

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