Evidence map›Paper›PMID 38095107›Full record

ReviewArteriosclerosis, thrombosis, and vascular biology2024

Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.

Avanthi Raghavan, James P Pirruccello, Patrick T Ellinor, Mark E Lindsay

Open access · greenAbstract readReview
In one paragraph

Review in Arteriosclerosis, thrombosis, and vascular biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.1field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 8 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 2 institutions in 1 country.

Avanthi RaghavanCardiology Division (A.R., P.T.E., M.E.L.), Massachusetts General Hospital, Boston.
James P PirruccelloDivision of Cardiology, University of California San Francisco (J.P.P.).
Patrick T EllinorCardiology Division (A.R., P.T.E., M.E.L.), Massachusetts General Hospital, Boston.ORCID 0000-0002-2067-0533
Mark E LindsayCardiology Division (A.R., P.T.E., M.E.L.), Massachusetts General Hospital, Boston.ORCID 0000-0001-6724-7938
Broad Institute · USUniversity of California, San Francisco · US

Funding

IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6M
Modeling and Therapeutic Approaches for Genetic VasculopathiesR01NS125353 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI MARK E LINDSAY, Patricia L Musolino · 2022 to 2026
$3.5M
Genomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3M
Using Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9M
Deep learning to enable the genetic analysis of aortaK08HL159346 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI PIRRUCCELLO, JAMES · 2021 to 2025
$827k
Targeting Chronic Senescence to Restore Tissue Homeostasis in Myhre syndromeR21AR080778 · NIAMS · MASSACHUSETTS GENERAL HOSPITAL · PI LINDSAY, MARK E, MOU, HONGMEI · 2022 to 2023
$386k
NHLBI NIH HHS K08 HL159346NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL157635NIAMS NIH HHS R21 AR080778NINDS NIH HHS R01 NS125353
6 · The paper itself

Abstract

Aortic disease, including dissection, aneurysm, and rupture, carries significant morbidity and mortality and is a notable cause of sudden cardiac death. Much of our knowledge regarding the genetic basis of aortic disease has relied on the study of individuals with Mendelian aortopathies and, until recently, the genetic determinants of population-level variance in aortic phenotypes remained unclear. However, the application of machine learning methodologies to large imaging datasets has enabled researchers to rapidly define aortic traits and mine dozens of novel genetic associations for phenotypes such as aortic diameter and distensibility. In this review, we highlight the emerging potential of genomics for identifying causal genes and candidate drug targets for aortic disease. We describe how deep learning technologies have accelerated the pace of genetic discovery in this field. We then provide a blueprint for translating genetic associations to biological insights, reviewing techniques for locus and cell type prioritization, high-throughput functional screening, and disease modeling using cellular and animal models of aortic disease.

Indexed as

Aortic Aneurysm, ThoracicAortic DiseasesAortic DissectionAnimalsGenomicsHumansPhenotypeaortic diseasedeep learninggenomicsmorbidityphenotype

Identifiers

PMID38095107
PMCPMC10843699
OpenAlexW4389742359

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.