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Hot Topics of the Day|PHGKB
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10/19/2019

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

What Beyonce’s Dad And Angelina Jolie Have In Common
E Matloff, Forbes, October 18, 2019

Beyonce’s father, Matthew Knowles, recently went public with the announcement that he has breast cancer and carries a mutation in a gene called BRCA2. He joins Angelina Jolie as a celebrity who has shared his private medical and genetic history in order to raise awareness and potentially help millions of patients and health care providers.

Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease
E Fotieu et al, Circulation Genomics and Precision Medicine, October 2019

We compared copy number variants present in 4634 nonsyndromic CHD cases derived from publicly available data resources and the literature, and >27?000 healthy individuals. We analyzed deletions and duplications independently and identified copy number variant regions exclusive to cases. These data were integrated with whole-exome sequencing data.

Color Makes Polygenic Scores Available to Participants Through New Study
A Zhou, Color, October 2019

Researchers have increasingly recognized that most individuals with common diseases such as CAD do not have a rare monogenic mutation. Rather, their inherited risk may be due to the cumulative effect of many variants scattered across the genome. Each of these alone has a small contribution to heart disease risk — but in aggregate they can have a large effect.

Every Diagnosis Matters
Global Genes, October 17, 2019

Genetic counselors save health care dollars when involved in the testing process
AC Sturm, The Hill, October 2019

As a cardiovascular genetic counselor with more than 15 years of experience, I know firsthand the critical importance of identifying genetic risk in a timely manner. Genetic counselors are in a unique position to help patients and their providers navigate medically complex genetic risk factors.


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.
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