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Hot Topics of the Day|PHGKB
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01/25/2020

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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Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project.
Downie Lilian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan

Genomic newborn screening raises practical and ethical issues. Evidence is required to build a framework to introduce this technology safely and effectively. We investigated the choices made by a diverse group of parents with newborns when offered tiered genomic information from exome sequencing.

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora Neeta L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan

We investigated the diagnostic and clinical performance of trio exome sequencing (ES) in parent-fetus trios where the fetus had sonographic abnormalities but normal karyotype, microarray and, in some cases, normal gene-specific sequencing. In 21/102 (20.6%) fetuses, ES provided a positive-definitive or positive-probable diagnosis.

DNA sleuths read the coronavirus genome, tracing its origins and looking for dangerous mutations
S Begley, Stat News, January 24, 2020

s infectious disease specialists and epidemiologists race to contain the outbreak of the novel coronavirus centered on Wuhan, China, they’re getting backup that’s been possible only since the explosion in genetic technologies: a deep-dive into the DNA of the virus known as 2019-nCoV.

Mirror, Mirror, On The Wall: The Epigenetics Of Aging
E Matloff, Forbes, January 24, 2020

Unlike the DNA we are born with, epigenetic findings can change over the course of our lifetimes. It has been postulated that examining these epigenetic findings can be used to help determine our ‘true age,’ as opposed to the chronological age associated with our birthdate.

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
M Pinese, Nature Communications, January 2020

The Genome Reference Bank (MGRB), comprising whole genome sequence and phenotype of 2570 elderly Australians depleted for cancer, cardiovascular disease, and dementia. MGRB individuals have fewer disease-associated common and rare germline variants, relative to both cancer cases and the gnomAD and UK Biobank cohorts,


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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