R&D as the driving force behind the continuous improvement of our services

At Health in Code, we have created a repository of genomic and clinical data to improve the accuracy of the diagnostic process. Our unique database brings together relevant information on more than 400,000 cases and puts more than 25 years of experience in cardiology and oncology at the service of patients.

+400.000

cases

+20

years

+90.000

Evaluated scientific articles

Our latest scientific publications

Cardiología

Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

Arsonval Lamounier Junior, Alba Guitián González, Alejandro Rodríguez Vilela, Alfredo Repáraz Andrade, Álvaro Rubio Alcaide, Ana Berta Sousa, Carmen Benito López, Diego Alonso García, Germán Fernández Ferro, et al.

Rev Esp Cardiol (Engl Ed). 2021 Feb 25;S1885-5857(21)00016-5. doi: 10.1016/j.rec.2021.01.001., 2021;

Oncología

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

Paula Martínez-Fernández, Patricia Pose, Raquel Dolz-Gaitón, Arantxa García, Inmaculada Trigo-Sánchez, Enrique Rodríguez-Zarco, MJose Garcia-Ruiz, Ibon Barba, Marta Izquierdo-García, Jennifer Valero-Garcia, Carlos Ruiz, Marián Lázaro, Paula Carbonell, Pablo Gargallo, Carlos Méndez, Juan José Ríos-Martín, Alberto Palmeiro-Uriach, Natalia Camarasa-Lillo, Jerónimo Forteza-Vila, Inés Calabria.

J Pers Med. 2021 Apr 29;11(5):360. doi: 10.3390/jpm11050360., 2021;

Cardiología

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Mohammed Majid Akhtar, MD; Massimiliano Lorenzini, MD; Menelaos Pavlou, PhD; Juan Pablo Ochoa, MD; et al.

JAMA Cardiol. Published online May 12, 2021. doi:10.1001/jamacardio.2021.1106, 2021;

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Working on a better future

At Health in Code, we believe in open innovation, developing our R&D projects in collaboration with hospitals and research centers.

LIQUID BIOPSY

Through the Compra Pública Innovadora project, we are developing a prototype to identify biomarkers in blood that would enable early diagnosis, as well as personalize and monitor the treatment of cancer patients affected by early-stage and metastatic breast and colon solid tumors.

PROTEOMICS

We focus on the combined use of genomic tools to create a holistic solution for patient management.

GENOME ANALYSIS

We work on developing a faster and more efficient way of genome analysis to provide a better service to patients in pediatric ICUs and attend to cases that cannot be satisfactorily assessed with other technologies.

Other
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We want to work
with you

At Health in Code, we believe in open innovation, developing our R&D projects in collaboration with hospitals and research centers

R&D as the driving force behind the continuous improvement of our services

Our latest scientific publications

Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Published articles in 2021

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.

Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification.

Retinoblastoma and mosaic 13q deletion: a case report.

Muscle weakness, joint laxity and keloids. A more than suggestive association.

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Published articles in 2020

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful Family and Genetic Evaluation Key to Appropriate Diagnosis and Management.

Novel Filamin C missense mutation associated with severe restrictive cardiomyopathy overlapping with left ventricular non-compaction.

Protein haploinsufficiency drivers identify MYBPC3 mutations that cause hypertrophic cardiomyopathy.

The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.

Clinical utility of genetic testing in patients with dilated cardiomyopathy.

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

Prognostic implications of pathogenic truncating variants in the TTN gene.

Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

Pharmacogenomics and Cardiovascular Disease: Where are We and Where do We go from Here?.

Desarrollo y validación de un panel de secuenciación masiva en paralelo para farmacogenética clínica.

Published articles in 2019

Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.

Direct CDKN2 Modulation of CDK4 Alters Target Engagement of CDK4 Inhibitor Drugs.

Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.

Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.

Response by Sheikh et al to Letter Regarding Article, ‘Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion’.

Exploring Haploinssuficiency Drivers in a Set of cMyBP-C Missense Mutations Causing Hypertrophic Cardiomyopathy.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.

Published articles in 2018

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Differential diagnosis of thickened myocardium: an illustrative MRI review.

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Usefulness of genetic diagnosis in a woman with hypertrophic cardiomyopathy and the desire for motherhood: information is key.

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts.

Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion.

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.

Published articles in 2017

Modulation of SHBG binding to testosterone and estradiol by sex and morbid obesity.

Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

Corrigendum: Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Clinical Exome Sequencing: Results from 2819 Samples Reflecting 1000 Families.

Direct Oral Anticoagulants in Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation.

Published articles in 2016

Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.

Genetics of Dyslipidemia.

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

Predictors of Atrial Fibrillation in Hypertrophic Cardiomyopathy.

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease.

European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.

Genetic Basis of Familial Dilated Cardiomyopathy Patients Undergoing Heart Transplantation.

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

The Structural Effects of Mutations Can Aid in Differential Phenotype Prediction of Beta-Myosin Heavy Chain (Myosin-7) Missense Variants.

Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.

Genetic Evaluation, Familial Screening and Exercise.

Extensa Familia con Síndrome de Marfan en la que se Demuestra la Patogenicidad de una Variante «Sinónima» (p.Ile2118=) en el Gen de la Fibrilina 1.

Published articles in 2015

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Prediction of Thrombo-Embolic Risk in Patients with Hypertrophic Cardiomyopathy (HCM Risk-CVA).

Phenotype and Prognostic Correlations of the Converter Region Mutations Affecting the Β Myosin Heavy Chain.

Atlas of the Clinical Genetics of Human Dilated Cardiomyopathy.

Novel Genotype-Phenotype Associations Demonstrated by High-Throughput Sequencing in Patients with Hypertrophic Cardiomyopathy.

The Alpha-galactosidase A p.Arg118Cys Variant Does Not Cause a Fabry Disease Phenotype: Data from Individual Patients and Family Studies.

Genetics of Cardiomyopathies: Novel Perspectives with Next Generation Sequencing.