Machine learning in medicine

RC Deo - Circulation, 2015 - Am Heart Assoc
Spurred by advances in processing power, memory, storage, and an unprecedented wealth
of data, computers are being asked to tackle increasingly complex learning tasks, often with …

Little fish, big data: zebrafish as a model for cardiovascular and metabolic disease

P Gut, S Reischauer, DYR Stainier… - Physiological …, 2017 - journals.physiology.org
The burden of cardiovascular and metabolic diseases worldwide is staggering. The
emergence of systems approaches in biology promises new therapies, faster and cheaper …

Reaching the end-game for GWAS: machine learning approaches for the prioritization of complex disease loci

HL Nicholls, CR John, DS Watson, PB Munroe… - Frontiers in …, 2020 - frontiersin.org
Genome-wide association studies (GWAS) have revealed thousands of genetic loci that
underpin the complex biology of many human traits. However, the strength of GWAS–the …

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

MF Ortiz-Genga, S Cuenca, M Dal Ferro, E Zorio… - Journal of the American …, 2016 - jacc.org
Background: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment
to the plasmatic membrane. FLNC mutations have been associated with myofibrillar …

Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments

N Orphanou, E Papatheodorou, A Anastasakis - Heart failure reviews, 2022 - Springer
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …

A mutation update for the FLNC gene in myopathies and cardiomyopathies

JAJ Verdonschot, EK Vanhoutte, GRF Claes… - Human …, 2020 - Wiley Online Library
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …

Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures

RL Begay, SL Graw, G Sinagra, A Asimaki… - JACC: Clinical …, 2018 - jacc.org
Objectives: The purpose of this study was to assess the phenotype of Filamin C (FLNC)
truncating variants in dilated cardiomyopathy (DCM) and understand the mechanism …

Structure and function of filamin C in the muscle Z-disc

Z Mao, F Nakamura - International journal of molecular sciences, 2020 - mdpi.com
Filamin C (FLNC) is one of three filamin proteins (Filamin A (FLNA), Filamin B (FLNB), and
FLNC) that cross-link actin filaments and interact with numerous binding partners. FLNC …

Tools for predicting the functional impact of nonsynonymous genetic variation

H Tang, PD Thomas - Genetics, 2016 - academic.oup.com
As personal genome sequencing becomes a reality, understanding the effects of genetic
variants on phenotype—particularly the impact of germline variants on disease risk and the …

FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy

RL Begay, CA Tharp, A Martin, SL Graw… - JACC: Basic to …, 2016 - jacc.org
A genetic etiology has been identified in 30% to 40% of dilated cardiomyopathy (DCM)
patients, yet only 50% of these cases are associated with a known causative gene variant …