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Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice.


ABSTRACT: Echocardiography, a rapid and cost-effective imaging technique, assesses cardiac function and structure. Despite its popularity in cardiovascular medicine and clinical research, image-derived phenotypic measurements are manually performed, requiring expert knowledge and training. Notwithstanding great progress in deep-learning applications in small animal echocardiography, the focus has so far only been on images of anesthetized rodents. We present here a new algorithm specifically designed for echocardiograms acquired in conscious mice called Echo2Pheno, an automatic statistical learning workflow for analyzing and interpreting high-throughput non-anesthetized transthoracic murine echocardiographic images in the presence of genetic knockouts. Echo2Pheno comprises a neural network module for echocardiographic image analysis and phenotypic measurements, including a statistical hypothesis-testing framework for assessing phenotypic differences between populations. Using 2159 images of 16 different knockout mouse strains of the German Mouse Clinic, Echo2Pheno accurately confirms known cardiovascular genotype-phenotype relationships (e.g., Dystrophin) and discovers novel genes (e.g., CCR4-NOT transcription complex subunit 6-like, Cnot6l, and synaptotagmin-like protein 4, Sytl4), which cause altered cardiovascular phenotypes, as verified by H&E-stained histological images. Echo2Pheno provides an important step toward automatic end-to-end learning for linking echocardiographic readouts to cardiovascular phenotypes of interest in conscious mice.

SUBMITTER: Bukas C 

PROVIDER: S-EPMC10290584 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature

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Echo2Pheno: a deep-learning application to uncover echocardiographic phenotypes in conscious mice.

Bukas Christina C   Galter Isabella I   da Silva-Buttkus Patricia P   Fuchs Helmut H   Maier Holger H   Gailus-Durner Valerie V   Müller Christian L CL   Hrabě de Angelis Martin M   Piraud Marie M   Spielmann Nadine N  

Mammalian genome : official journal of the International Mammalian Genome Society 20230523 2


Echocardiography, a rapid and cost-effective imaging technique, assesses cardiac function and structure. Despite its popularity in cardiovascular medicine and clinical research, image-derived phenotypic measurements are manually performed, requiring expert knowledge and training. Notwithstanding great progress in deep-learning applications in small animal echocardiography, the focus has so far only been on images of anesthetized rodents. We present here a new algorithm specifically designed for  ...[more]

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