PubHawk
December 2016 PMID 28008009

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui, Raghu Metpally, Sarah A Pendergrass, Monica A Giovanni, H Lester Kirchner, Suganthi Balasubramanian

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Mentions

162
Peak: 2 in Jul 2019
across 5 sources since Dec 2016

Extended reach

685
potential audience

Total likes

34

Video views

686

Mentions per month

Dec 2016 – Sep 2019

Where it's discussed

  • News140 articles
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  • Facebook9 posts
  • YouTube2 videos
  • Bluesky1 posts

AI synopsis

What people are saying

The overall tone suggests strong support and interest, with comments like 'important step for personalized medicine' and references to genetic variants linked to diseases, indicating deep engagement and perceived high impact. Use of words like 'groundbreaking' and 'potential to transform healthcare' shows enthusiasm for the study's significance and implications.

AgreementModerate agreement

Most posts recognize the importance of the study, highlighting its support for personalized medicine and genetic research advancements.

InterestHigh interest

Posts demonstrate high interest by discussing clinical implications and genetic insights detailed in the publication.

EngagementModerate engagement

Users actively engage by analyzing the methodology, such as mentioning the link between genetic variants and disease risk, and debating its scientific significance.

ImpactHigh impact

Discussions reflect an understanding of the study’s potential to influence future medical research and therapeutic approaches, emphasizing its broad significance.

Abstract in brief

  • The DiscovEHR study sequenced the exomes of 50,726 adults to identify millions of rare genetic variants, including some that could disable genes, and linked these variants to health records to find connections between genetics and disease.
  • The study found that about 35% of participants carry harmful genetic variants in 76 genes that are important for health, supporting the potential for personalized medicine and targeted therapies, especially for lipid levels and blood traits.
  • Overall, the research offers a detailed map for using large-scale genetic data to advance precision medicine, identify new drug targets, and improve understanding of genetic influences on health.]
Read the full abstract

Top posts

Most liked on X and Bluesky
Paleogenomics - María Ávila Arcos
@paleogenomics.bsky.social · Bluesky

'Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study' http://science.sciencemag.org/content/354/6319/aaf6814?utm_campaign=toc_sci-mag_2016-12-22&et_rid=17175430&et_cid=1068757

Dec 22, 2016 View post →

All mentions

Paleogenomics - María Ávila Arcos
@paleogenomics.bsky.social · Bluesky

'Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study' http://science.sciencemag.org/content/354/6319/aaf6814?utm_campaign=toc_sci-mag_2016-12-22&et_rid=17175430&et_cid=1068757

Dec 22, 2016 View post →