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Hot Topics of the Day|PHGKB
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12/23/2019

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 Does It Mean When Everyone Can Get Their DNA Sequenced?
K Miller, Discover, December 22, 2019

DTC companies don’t conduct clinical testing, so their labs don’t have to meet the same strict federal standards as medical facilities. The companies typically post disclaimers stating that their products are not for medical use. Yet more and more patients are asking physicians for advice based on DTC test results, leading doctors into largely uncharted territory.

Autism risk in offspring can be assessed through quantification of male sperm mosaicism
MW Breus et al, Nature Medicine, December 23, 2019

We measured sperm mosaicism using deep-whole-genome sequencing, for variants both present in an offspring and evident only in father’s sperm, and identified single-nucleotide, structural and short tandem-repeat variants. We found that mosaicism quantification can stratify autism spectrum disorders recurrence risk due to de novo mutations.

Paternal sperm DNA mosaicism and recurrence risk of autism in families
Nature Medicine, December 23, 2019

Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke.
Abraham Gad et al. Nature communications 2019 Dec (1) 5819

Using a meta-scoring approach, we develop a metaGRS for ischaemic stroke (IS). The metaGRS hazard ratio for IS (1.26, 95% CI 1.22–1.31 per metaGRS standard deviation) doubles that of a previous GRS, identifying a subset of individuals at monogenic levels of risk: the top 0.25% of metaGRS have three-fold risk of IS.

HIV & AIDS with DNA HIV

Invasive Nontypeable Haemophilus influenzae Infection Among Adults With HIV in Metropolitan Atlanta, Georgia, 2008-2018.
Collins Lauren F et al. JAMA 2019 Dec (24) 2399-2410 Brand

What are the epidemiological, clinical, and genetic features of invasive nontypeable Haemophilus influenzae (NTHi) infection among adults with HIV in metropolitan Atlanta, Georgia?


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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