PubHawk
Genome Biol May 2023 PMID 37198692

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J McCabe, Sarah Beecroft, Matilda R Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E Dinger, Hamish S Scott

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Mentions

48
Peak: 24 in May 2023
across 5 sources since May 2023

Extended reach

377,494
potential audience

Total likes

90

Video views

9

Mentions per month

May 2023 – Aug 2023

Where it's discussed

  • X / Twitter40 posts
  • News3 articles
  • Facebook2 posts
  • Blogs2 articles
  • YouTube1 videos

AI synopsis

What people are saying

Discussions around the publication show strong interest, with posts highlighting Introme’s ability to integrate multiple prediction tools for assessing splicing impacts, and words like 'accurate prediction,' 'clinical applications,' and 'superior accuracy' demonstrate a sense of significance and optimism about its transformative potential.

AgreementModerate agreement

Most discussions express support for the significance of Introme's capabilities, highlighting its superior accuracy and clinical relevance, indicating general consensus on its importance.

InterestHigh interest

Posts frequently mention the innovative use of machine learning and the potential implications for understanding splicing, showing strong curiosity and engagement with the topic.

EngagementModerate engagement

Several posts delve into the technical aspects, such as integration of multiple prediction tools and gene architecture considerations, reflecting active engagement beyond surface-level mentions.

ImpactHigh impact

Many comments emphasize the potential of Introme to improve diagnoses and influence genetic research, suggesting high perceived impact on clinical and scientific fields.

Abstract in brief

  • Predicting the effect of genetic variants on splicing is tough, especially for non-canonical splice sites, often leading to missed diagnoses.
  • Introme is a new tool that uses machine learning to combine predictions from various splice detection tools and factors in gene architecture to assess the impact of variants on splicing.
  • In tests with 21,000 variants, Introme showed superior accuracy (auPRC: 0.98) compared to other tools for identifying clinically significant splice variants, and it's accessible on GitHub.
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Top posts

Most liked on X and Bluesky
Patricia Sullivan
@PatSullivann · X

May 26, 2023 · 76 likes · 21 shares · 369 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 15, 2023 · 7 likes · 2 shares · 75,402 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme, which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 21, 2023 · 5 likes · 1 share · 75,402 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 3, 2023 · 2 likes · 1 share · 75,402 followers View post →
BMC
@BioMedCentral · X

RT @PatSullivann:

May 26, 2023 · 21 shares · 75,402 followers View post →
Alicia Oshlack
@AliciaOshlack · X

RT @PatSullivann:

May 26, 2023 · 21 shares · 8,901 followers View post →

All mentions

NGS Bioinformatics
@ngsbioinfo · X

RT @BioMedCentral: An article in @GenomeBiology presents Introme, which uses machine learning to integrate predictions from several splice…

Jun 21, 2023 · 1 share · 5,995 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme, which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 21, 2023 · 5 likes · 1 share · 75,402 followers View post →
John Giraldo
@jngo89 · X

RT @BioMedCentral: An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several…

Jun 16, 2023 · 2 shares · 9 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTXKC "Splice-altering variants can cause exon skipping, intronic read-through, cryptic exon inclusion, or shift the open reading frame to produce an aberrant gene product."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTXKC "This can result in reduced or absent function at the protein level or complete loss of protein expression due to mechanisms such as nonsense-mediated mRNA decay."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTpV4 "Additionally, there are regulatory elements, such as enhancers and silencers, in exons and introns that influence splice-site usage and exon inclusion."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTXKC "The main splicing motifs are the essential donor (5′) and acceptor (3′) splice sites at either end of the intron, the branchpoint, and the polypyrimidine tract (PPT)."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTXKC "The delineation of coding regions by the precise removal of intronic DNA from pre-mRNA is orchestrated by over 200 proteins and small nuclear RNAs (snRNAs) through the recognition of defined sequence motifs."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

https://t.co/4UyUadTXKC "Introme is available at https://t.co/72KkFCKKHA." "The process of splicing is critical for the accurate generation of mRNA and ultimately protein."

Jun 15, 2023 · 3,954 followers View post →
Rene Sugar
@renesugar · X

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications https://t.co/4UyUadTXKC

Jun 15, 2023 · 3,954 followers View post →
Valentina Riggio
@ValeRiggio · X

RT @BioMedCentral: An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several…

Jun 15, 2023 · 2 shares · 248 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 15, 2023 · 7 likes · 2 shares · 75,402 followers View post →
Fulbright Australia
@FulbrightAUS · X

RT @PatSullivann:

Jun 14, 2023 · 21 shares · 2,407 followers View post →
Tamino
@taminolex · X

RT @BioMedCentral: An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several…

Jun 3, 2023 · 1 share · 4,321 followers View post →
BMC
@BioMedCentral · X

An article in @GenomeBiology presents Introme: a tool which uses machine learning to integrate predictions from several splice detection tools and gene architecture features to comprehensively evaluate the likelihood of a variant impacting splicing. https://t.co/hJlMncYKgg

Jun 3, 2023 · 2 likes · 1 share · 75,402 followers View post →
Amanda Haddock
@AmandaHaddock · X

RT @PatSullivann:

Jun 2, 2023 · 21 shares · 7,603 followers View post →
Escamez Lab
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May 27, 2023 · 21 shares · 1,364 followers View post →
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May 27, 2023 · 21 shares · 644 followers View post →
Daniel Lee
@zzzang5889 · X

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May 27, 2023 · 21 shares · 12 followers View post →
Renato Puga
@renatopuga · X

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May 27, 2023 · 21 shares · 55 followers View post →
Marion Mateos
@Dr_MMateos · X

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May 26, 2023 · 21 shares · 252 followers View post →
James Ferguson
@Psy_Fer_ · X

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May 26, 2023 · 21 shares · 3,811 followers View post →
Dianne Sylvester
@muppys · X

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May 26, 2023 · 21 shares · 776 followers View post →
Alicia Oshlack
@AliciaOshlack · X

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May 26, 2023 · 21 shares · 8,901 followers View post →
Genomic Technologies Group
@GenTechGp · X

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May 26, 2023 · 21 shares · 667 followers View post →
Chelsea Mayoh
@cmayoh_bio · X

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May 26, 2023 · 21 shares · 224 followers View post →
Martin Smith
@martinalexsmith · X

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May 26, 2023 · 21 shares · 3,587 followers View post →
Pat Adams
@PathologyPat · X

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May 26, 2023 · 21 shares · 1,513 followers View post →
aaaa
@ngsstudent · X

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May 26, 2023 · 21 shares · 562 followers View post →
Amarinder
@amarinder_thind · X

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May 26, 2023 · 21 shares · 172 followers View post →
BMC
@BioMedCentral · X

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May 26, 2023 · 21 shares · 75,402 followers View post →
Jovana Maksimovic
@JovMaksimovic · X

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May 26, 2023 · 21 shares · 1,894 followers View post →
Wilfried Haerty
@WHaerty · X

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May 26, 2023 · 21 shares · 573 followers View post →
Yuichi Shiraishi
@friend1_ws · X

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May 26, 2023 · 21 shares · 179 followers View post →
Sam El-Kamand
@SamElkamand · X

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May 26, 2023 · 21 shares · 23 followers View post →
Patricia Sullivan
@PatSullivann · X

May 26, 2023 · 76 likes · 21 shares · 369 followers View post →
I gotta change my name but I haven't
@epi_boto · X

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications https://t.co/i9C9okReyV

May 21, 2023 · 13 followers View post →
Seiichi Mori
@seiichi_mori · X

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications https://t.co/8qbUCnNcr1 https://t.co/pVrZPRcWiH

May 19, 2023 · 312 followers View post →
Oncology & Machine Learning
@MlOncology · X

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications https://t.co/NfOmEDnxga

May 18, 2023 · 213 followers View post →
MyJournals
@myjournals · X

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications https://t.co/6ZkMeVsUKQ

May 17, 2023 · 556 followers View post →