Last Posted: Aug 19, 2019
- For ‘Diagnosis’ Show, Dr. Lisa Sanders Lets Times Readers Around the World Join in the Detective Work
A Times Magazine columnist credits Sherlock Holmes and global crowdsourcing with helping her solve patients’ mysterious ailments. A Gardiner, NY Times, August 16, 2019
- A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Park Joseph et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
- Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities - a retrospective study of German health insurance claims data.
Trefz K F et al. Orphanet journal of rare diseases 2019 Jul 14(1) 181
- Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.
Lewis Celine et al. Clinical genetics 2019 Jul
- International Guidelines for the Treatment of Huntington's Disease.
Bachoud-Lévi Anne-Catherine et al. Frontiers in neurology 2019 10710
- The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Schwarze Katharina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul
- Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor John et al. Genome medicine 2019 Jul 11(1) 46
- How an AI expert took on his toughest project ever: writing code to save his son’s life
C Ross, Stat News, July 25, 2019
- How an AI expert took on his toughest project ever: writing code to save his sons life,
by Casey Ross, Stats News, July 25, 2019
- National platform for Rare Diseases Data Registry of Japan.
Furusawa Yoshihiko et al. Learning health systems 2019 Jul 3(3) e10080
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Jul 30, 2019
- Page last updated:Aug 19, 2019
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