Annu Rev Genomics Hum Genet August 2021 PMID 33900788

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.

Hunter H Giles, Madhuri R Hegde, Elaine Lyon, Christine M Stanley, Iain D Kerr, Megan E Garlapow, Julie M Eggington

Mentions

29
Peak: 18 in Sep 2021
across 3 sources since May 2021

Extended reach

11,417
potential audience

Total likes

23

Video views

492

Mentions per month

May 2021 – Oct 2022

Where it's discussed

  • X / Twitter14 posts
  • YouTube12 videos
  • News3 articles

AI synopsis

What people are saying

Overall, the discussions demonstrate strong enthusiasm and perceived importance of the publication, with references to it as a 'must-read' and praises for expert contributions, indicating a belief in its value to the field. The tone emphasizes progress and the need for standardized practices, but the engagement remains surface-level rather than deeply critical or innovative.

AgreementModerate agreement

Most discussions acknowledge the importance of the article in advancing understanding within genetic variant classification, with some explicitly supporting the review's insights as crucial for the field.

InterestHigh interest

The posts show high interest, often referencing the article as a 'must-read' and highlighting its relevance for ongoing advancements and standards.

EngagementModerate engagement

While many posts promote the article and mention expert contributions, their engagement remains generally introductory, without deep analysis or critical perspectives.

ImpactModerate impact

The discussions suggest moderate perceived influence, as the article is presented as a significant update or summary of the field, though mainly as a resource rather than a catalyst for immediate change.

Abstract in brief

  • The article discusses the importance of clinical genetic variant classification in improving the accuracy of DNA sequencing tests, which is crucial for advancing personalized medicine in both hereditary and cancer-related genetics.
  • It reviews current classification systems, highlighting their limitations, potential biases towards positive results, and the impact of factors like panel size and population screening on test accuracy.
  • Experts' opinions and standards are included to assess the current state of the field and to suggest areas for improvement in variant classification practices.]

Top posts

Most liked on X and Bluesky
Variantyx Inc.
@variantyx · X

Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant classification standards & guidelines from various domain experts, including our Lab Director, Christine M Stanley, PhD, FACMG. https://t.co/6GVnid3ZjR https://t.co/14tYvsvt4I

Oct 8, 2021 · 8 likes · 4 shares · 255 followers View post →
PerkinElmer Genomics
@PKIGenomics · X

Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/axYcSU9rTe https://t.co/QE8yvHs9pl

Oct 6, 2021 · 5 likes · 519 followers View post →
Center for Genomic Interpretation
@ClarifyGenetics · X

This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing. Read it here, https://t.co/4ljM0DzJna, or you can have the first author read it to you on YouTube by following this link: https://t.co/wAzcPYDRgx

Sep 16, 2021 · 4 likes · 1 share · 81 followers View post →
Center for Genomic Interpretation
@ClarifyGenetics · X

We published a paper! Read it here https://t.co/4ljM0DzJna OR watch the first author, Hunter Giles, read it to you, here https://t.co/VGF2gmeb1x. Yes, our boss really had him video himself reading the paper! #gcchat #clinicalgenetics #clinicalgenomics https://t.co/OeQucqCqkD

Sep 15, 2021 · 2 likes · 81 followers View post →
Pat Adams
@PathologyPat · X

Variant classification- Germline and somatic - Standards and levels of evidence https://t.co/0RXGY3dWPG

Sep 17, 2021 · 1 like · 1,512 followers View post →
Sara Osman
@SARAWHUFAN · X

Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/sOvi7qi1b9 #TeamPKI https://t.co/1pLaVhXn0p

Oct 6, 2021 · 1 like · 111 followers View post →

All mentions

Seiichi Mori
@seiichi_mori · X

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy https://t.co/hzM7A9nKTo https://t.co/OodFPlA9db

Oct 3, 2022 · 314 followers View post →
Jen Tarpinian
@jeneticsjen · X

RT @variantyx: Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant…

Oct 8, 2021 · 4 shares · 132 followers View post →
Dr Fatima Marhoon
@dr_fmarhoon · X

RT @variantyx: Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant…

Oct 8, 2021 · 4 shares · 881 followers View post →
Variantyx Inc.
@variantyx · X

Genetic variant classification is an evolving field, but breakthroughs and lessons have yielded progress. Read about variant classification standards & guidelines from various domain experts, including our Lab Director, Christine M Stanley, PhD, FACMG. https://t.co/6GVnid3ZjR https://t.co/14tYvsvt4I

Oct 8, 2021 · 8 likes · 4 shares · 255 followers View post →
Sara Osman
@SARAWHUFAN · X

Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/sOvi7qi1b9 #TeamPKI https://t.co/1pLaVhXn0p

Oct 6, 2021 · 1 like · 111 followers View post →
PerkinElmer Genomics
@PKIGenomics · X

Our very own Dr. Madhuri Hegde joins experts from across the field to address the unique challenges our industry faces in genetic variant classification. Read now in the Annual Review of Genomics and Human Genetics: https://t.co/axYcSU9rTe https://t.co/QE8yvHs9pl

Oct 6, 2021 · 5 likes · 519 followers View post →
enlightenbio
@enlightenbio · X

An opinion piece on the current state of #variantclassification with most widely used standards and guideline applied - various domain experts. @ClarifyGenetics @hudsonalpha, @C2iGenomics, @variantyx, & @PKIGenomics https://t.co/LQ6cVirHwE

Sep 28, 2021 · 1,199 followers View post →
Robert C. Green
@RobertCGreen · X

RT @ClarifyGenetics: This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing.…

Sep 18, 2021 · 1 share · 4,944 followers View post →
Pat Adams
@PathologyPat · X

Variant classification- Germline and somatic - Standards and levels of evidence https://t.co/0RXGY3dWPG

Sep 17, 2021 · 1 like · 1,512 followers View post →
Center for Genomic Interpretation
@ClarifyGenetics · X

This is a must-read review outlining the current strengths and weaknesses of modern clinical genetic/genomic testing. Read it here, https://t.co/4ljM0DzJna, or you can have the first author read it to you on YouTube by following this link: https://t.co/wAzcPYDRgx

Sep 16, 2021 · 4 likes · 1 share · 81 followers View post →
Center for Genomic Interpretation
@ClarifyGenetics · X

We published a paper! Read it here https://t.co/4ljM0DzJna OR watch the first author, Hunter Giles, read it to you, here https://t.co/VGF2gmeb1x. Yes, our boss really had him video himself reading the paper! #gcchat #clinicalgenetics #clinicalgenomics https://t.co/OeQucqCqkD

Sep 15, 2021 · 2 likes · 81 followers View post →
Janet Piñero
@Janis3_14159 · X

The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy https://t.co/c4mpfKuSeY

Sep 1, 2021 · 768 followers View post →
The Rising Tide Podcast
@TheRisingTideP1 · X

RT @MeganMegaPow: Our article on #clinical #genetics & #genomics, #technical #accuracy is out in preprint. Though a review, we also have so…

May 3, 2021 · 1 share · 7 followers View post →
Megan Garlapow, PhD
@MeganMegaPow · X

Our article on #clinical #genetics & #genomics, #technical #accuracy is out in preprint. Though a review, we also have some really exciting, novel work on #positivepredictivevalue. https://t.co/m3KNLEF308

May 1, 2021 · 1 like · 1 share · 92 followers View post →