Clinical Genomics · Bioinformatics

N.Tsaousis

PhD  ·  Group Leader of Bioinformatics  ·  Lecturer

Bridging computational biology and clinical diagnostics across oncology, cardiology, and neurology. Over 15 years building NGS pipelines, translating genomic data into actionable clinical insight, and training the next generation of bioinformaticians.

Publications Google Scholar Contact
Biocurator
ClinGen
45+
Journal papers
PhD
Bioinformatics, UoA
859+
Citations
Affiliations
GeneKor SA · Group Leader of Bioinformatics
Elected Board Member · Hellenic Society for Computational Biology & Bioinformatics (HSCBB)
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Research Focus

Areas of expertise

🧬

Clinical Genomics

Genetic testing, variant classification, and germline interpretation across hereditary cancer syndromes, cardiological, neurological and rare diseases.

ACMG/AMPCNV analysisVUSClinGenWES/WGS
⚗️

Somatic Genomics & Liquid Biopsy

NGS-based tumor molecular profiling, ctDNA analysis, HRD assessment for precision oncology across solid tumours.

ctDNAHRDTMBevidence-based interpretation
📊

Clinical Data Science & Health Informatics

Statistical analysis of genomic and clinical cohorts, EHR data integration, Laboratory Information System (LIS) development, and patient-level data linkage for translational research.

EHRGLIMSCohort analysisPatient data integrationGStats
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Computational Biology

Sequence analysis, protein structure prediction, membrane protein topology, and Hidden Markov Model-based tools — the foundational research thread running from PhD through postdoctoral work.

HMMsTransmembrane proteinsMoRFsGPCR detectionDatabase development
Experience

Career timeline

May 2015 — Present
Group Leader of Bioinformatics
Genekor Medical SA, Athens
Leading clinical NGS pipelines, variant classification workflows, and translational genomics R&D across hereditary cancer, cardiology, and neurology programmes. Directing cross-functional bioinformatics team.
October 2020 — Present
Lecturer (Module Leader)
Metropolitan College, Athens
Module leader for Functional Genomics and Research Skills, and Clinical Genetics and Diagnostics — both within the MSc in Medical Genetics and Genomics programme.
September 2014 — September 2025
Lecturer
MSc in Bioinformatics, Faculty of Biology, University of Athens
Teaching "Programming Languages and Software Tools in Bioinformatics I & II" at postgraduate level.
March 2014 — March 2015
Post-Doctoral Research Fellow
Faculty of Biology, University of Athens
"Comprehensive Study of Membrane Receptors' function and Correlation with Disease, using Bioinformatics" — Synergasia 2009 Project, funded by the Greek Ministry of Education.
February 2009 — February 2014
Researcher
Faculty of Biology, University of Athens
PhD research on bioinformatics of membrane protein function and structure. Heracleitus II PhD fellowship (NSRF/EU, 2010–2013).
February 2006 — February 2014
Teaching Assistant
Faculty of Biology, University of Athens
Assisting the laboratory practicals of the BSc course 'Bioinformatics'.
Research Output

Publications

  • 45
    Germline Genetic Testing in Breast and Gynecologic Cancers: Evaluating Age at Diagnosis as a Determinant
    2026Cancers (Basel) · Papadopoulou E, Tsaousis GN, et al.
    DOI →PMID 42192902
  • 44
    Updated ENIGMA Recommendations for Reporting Germline Variants in Cancer Susceptibility Genes and Their Translation into Twenty Languages
    2026Journal of Medical Genetics · De Nicolo A, Eccles DM, …, Tsaousis G, et al.
    DOI →PMID 42135054
  • 43
    Implementation of a 1021-Gene Liquid Biopsy Assay for Real-World Tumor Genomic Profiling in Oncology Practice
    2026Scientific Reports · Florou-Chatzigiannidou C, Papadopoulou E, …, Tsaousis G, et al.
    DOI →PMID 41721022
  • 42
    Evaluation of the 1021-HRD Assay Compared to Established HRD Testing Platforms in Ovarian Cancer
    2026Translational Oncology · Papadopoulou E, Fountzilas E, …, Tsaousis G, et al.
    DOI →PMID 41319389
  • 41
    Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use
    2025International Journal of Molecular Sciences · Meintani A, …, Tsaousis GN, et al.
    DOI →PMID 40649709
  • 40
    Molecular Alterations in Paired Epithelial Ovarian Tumors in Patients Treated with Neoadjuvant Chemotherapy
    2024Cancers (Basel) · Nikolaidi A, Papadopoulou E, …, Tsaousis GN, et al.
    DOI →
  • 39
    The Clinical and Genetic Landscape of Hereditary Cancer: Experience from a Single Clinical Diagnostic Laboratory
    2024Cancer Genomics Proteomics · Tsoulos N, Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 38
    Polygenic Risk Score (PRS) Combined with NGS Panel Testing Increases Accuracy in Hereditary Breast Cancer Risk Estimation
    2024Diagnostics (Basel) · Tsoulos N, …, Tsaousis GN, et al.
    DOI →
  • 37
    Germline Co-deletion of CDKN2A and CDKN2B Genes in Pleomorphic Xanthoastrocytoma: Case Report
    2024In Vivo · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 36
    Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice
    2024JCO Precision Oncology · Papadopoulou E, …, Tsaousis G, et al.
    DOI →
  • 35
    Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma
    2023Cancers (Basel) · Ziogas DC, …, Tsaousis GN, et al.
    DOI →
  • 34
    Concordance between Three HRD Assays in Patients with High-Grade Epithelial Ovarian Cancer
    2023Cancers (Basel) · Fountzilas E, …, Tsaousis G, et al.
    DOI →
  • 33
    RediScore: Prospective Validation of a Pipeline for Homologous Recombination Deficiency Analysis
    2023Oncology Letters · Tsantikidi A, …, Tsaousis G, et al.
    DOI →
  • 32
    Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing
    2023Cancers (Basel) · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 31
    The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking
    2023Diagnostics (Basel) · Tsantikidi A, …, Tsaousis G, et al.
    DOI →
  • 30
    Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing
    2023Cancer Genomics Proteomics · Agiannitopoulos K, …, Tsaousis GN, et al.
    PMID 37643779DOI →
  • 29
    CNV and RNA Analysis Reveal a Germline Pathogenic Duplication of MSH2 Exon 15 in a Family with Lynch Syndrome: A Case Report
    2023Journal of Clinical Images and Medical Case Reports · Apostolopoulou D, Özdoğan M, Agiannitopoulos K, Pepe G, Potska K, Tsaousis GN, et al.
  • 28
    Reclassification of Splicing Gene Variants in Hereditary Cancer: Cases Report and Literature Review
    2023In Vivo · Bouzarelou D, …, Tsaousis GN, et al.
    DOI →
  • 27
    A Novel Deletion of Exon 4 in the Ectodysplasin A Gene Associated with X-linked Hypohidrotic Ectodermal Dysplasia
    2023Archives of Oral Biology · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 26
    The Evolution of Comprehensive Genetic Analysis in Neurology: Implications for Precision Medicine
    2023Journal of the Neurological Sciences · Papadopoulou E, …, Tsaousis G, et al.
    DOI →
  • 25
    Genetic Predisposition to Male Breast Cancer: A Case Series
    2022Anticancer Research · Apessos A, …, Tsaousis GN, et al.
    DOI →
  • 24
    Importance of Multigene Panel Test in Patients with Consanguineous Marriage and Family History of Breast Cancer
    2022Oncology Letters · Ozmen V, …, Tsaousis GN, et al.
    DOI →
  • 23
    Revisiting the Implications of Positive Germline Testing Results Using Multi-gene Panels in Breast Cancer Patients
    2022Cancer Genomics Proteomics · Tsaousis GN, Papadopoulou E, et al.
    DOI →
  • 22
    Comprehensive Tumor Molecular Profile Analysis in Clinical Practice
    2021BMC Medical Genomics · Özdoğan M, Papadopoulou E, …, Tsaousis G, et al.
    DOI →
  • 21
    Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer
    2021Cancer Genomics Proteomics · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 20
    The Human GPCR Signal Transduction Network
    2021Network Modeling Analysis in Health Informatics and Bioinformatics · Kontou P, …, Tsaousis GN, et al.
    DOI →
  • 19
    Report of a Germline Double Heterozygote in MSH2 and PALB2
    2020Molecular Genetics & Genomic Medicine · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 18
    miRNA Polymorphisms and Risk of Premature Coronary Artery Disease
    2020Hellenic Journal of Cardiology · Agiannitopoulos K, …, Tsaousis GN, et al.
    DOI →
  • 17
    Investigation of Genetic Basis in the Treatment of Age-related Macular Degeneration
    2020International Ophthalmology · Gourgouli K, …, Tsaousis G, et al.
    DOI →
  • 16
    PerMemDB: A Database for Eukaryotic Peripheral Membrane Proteins
    2020Biochimica et Biophysica Acta – Biomembranes · Nastou KC, Tsaousis GN, Iconomidou VA.
    DOI →
  • 15
    Clinical Feasibility of NGS Liquid Biopsy Analysis in NSCLC Patients
    2019PLOS ONE · Papadopoulou E, …, Tsaousis GN, et al.
    DOI →
  • 14
    Characterization of the c.793-1G>A Splicing Variant in CHEK2 Gene as Pathogenic: A Case Report
    2019BMC Medical Genetics · Agiannitopoulos K, …, Tsaousis GN, et al.
    IF 5.48DOI →
  • 13
    JUCHMME: A Java Utility for Class Hidden Markov Models and Extensions for Biological Sequence Analysis
    2019Bioinformatics · Tamposis IA, …, Tsaousis GN, et al.
    IF 4.53DOI →
  • 12
    Analysis of Hereditary Cancer Syndromes by Using a Panel of Genes: Novel and Multiple Pathogenic Mutations
    2019BMC Cancer · Tsaousis GN, Papadopoulou E, et al.
    104 citationsIF 2.93DOI →
  • 11
    Comprehensive BRCA Mutation Analysis in the Greek Population
    2018Cancer Genetics · Apessos A, …, Tsaousis GN, et al.
    9 citations
  • 10
    Tumor Molecular Profiling of NSCLC Patients Using Next Generation Sequencing
    2017Oncology Reports · Tsoulos N, …, Tsaousis GN, et al.
    22 citations
  • 9
    Molecular Predictive Markers in Tumors of the Gastrointestinal Tract
    2016World Journal of Gastrointestinal Oncology · Papadopoulou E, …, Tsaousis GN, et al.
    7 citations
  • 8
    MBPpred: Proteome-wide Detection of Membrane Lipid-binding Proteins Using Profile Hidden Markov Models
    2016Biochimica et Biophysica Acta · Nastou KC, Tsaousis GN, et al.
    7 citations
  • 7
    Evidence for Association of the rs605059 Polymorphism of HSD17B1 Gene with Recurrent Spontaneous Abortions
    2015Journal of Maternal-Fetal & Neonatal Medicine · Ntostis P, …, Tsaousis GN, et al.
    6 citations
  • 6
    The Human Plasma Membrane Peripherome: Visualization and Analysis
    2014BioMed Research International · Nastou KC, Tsaousis GN, et al.
    16 citations
  • 5
    HMMpTM: Improving Transmembrane Protein Topology Prediction Using Phosphorylation and Glycosylation Site Prediction
    2014Biochimica et Biophysica Acta · Tsaousis GN, Bagos PG, Hamodrakas SJ.
    17 citations
  • 4
    mpMoRFsDB: A Database of Molecular Recognition Features (MoRFs) in Membrane Proteins
    2013Bioinformatics · Gypas F, Tsaousis GN, Hamodrakas SJ.
    IF 4.538 citations
  • 3
    Analysis of Molecular Recognition Features (MoRFs) in Membrane Proteins
    2013Biochimica et Biophysica Acta · Kotta-Loizou I, Tsaousis GN, Hamodrakas SJ.
    27 citations
  • 2
    ExTopoDB: A Database of Experimentally Derived Topological Models of Transmembrane Proteins
    2010Bioinformatics · Tsaousis GN, Tsirigos KD, et al.
    IF 4.5321 citations
  • 1
    How Many 3D Structures Do We Need to Train a Predictor?
    2009Genomics Proteomics Bioinformatics · Bagos PG, Tsaousis GN, Hamodrakas SJ.
    IF 6.625 citations
  • 2
    Predicting Alpha Helical Transmembrane Proteins Using HMMs
    2017Methods in Molecular Biology 1552:63–82 (Hidden Markov Models: Methods and Protocols) · Tsaousis GN, Theodoropoulou MC, Hamodrakas SJ, Bagos PG.
    2 citationsDOI →
  • 1
    Predicting Beta Barrel Transmembrane Proteins Using HMMs
    2017Methods in Molecular Biology 1552:43–61 (Hidden Markov Models: Methods and Protocols) · Tsaousis GN, Hamodrakas SJ, Bagos PG.
    5 citationsDOI →
2026
Venizelos V, Papazisis K, Markopoulos C, Xepapadakis G, Iosifidou R, Kapetsis G, Giannoulakis S, Tsoulos N, Meintani A, Tsaousis G, et al. Association of Oncotype DX Recurrence Score with Germline Mutations in Cancer Susceptibility Genes Including BRCA1/2 in HR+/HER2− Early Breast Cancer. Clinical Cancer Research (SABCS 2025). Abstract PS3-08-24.
2025
Zavos A, Natsiopoulos I, Papazisis K, Giassas S, Tsiftsoglou A, Bouzarelou D, Meintani A, Katseli A, Potska V, Tsaousis G, et al. Li-Fraumeni: "Genetic testing of Breast/ovarian cancer patients unmask familial pathogenic germline variants in TP53 gene. Clinical implications and family counselling." The Breast (St. Gallen 2025). P113.
2024
Agiannitopoulos K, Katseli N, Potska K, Dogka C, Tsoulos N, Papathanasiou A, Tsaousis G, et al. The importance of pre- and post-genetic counselling for genetic testing in hereditary cancer. European Journal of Human Genetics (ESHG 2024).
Agiannitopoulos K, Potska K, Tsaousis G, Pepe G, Bouzarelou D, Katseli N, et al. Low-level constitutional mosaicism in breast cancer patients. European Journal of Human Genetics (ESHG 2024).
Tsoulos N, Meintani A, Kapetsis G, Chatzigiannidou-Florou C, Tsantikidi A, Maxouri S, Tsaousis G, et al. Liquid Biopsy Testing in a Greek Cohort of ER-positive, HER2-negative metastatic breast cancer patients. Cancer Research (SABCS 2024). Abstract PO5-04-13.
2022
Tsoulos N, Agiannitopoulos K, Pepe G, Papadopoulou E, Tsaousis GN, Apostolopoulou D, et al. Different CNVs account for 10.4% of pathogenic variants in 1418 patients referred for hereditary breast cancer testing. Cancer Research (SABCS 2022). Abstract P2-09-10.
Papadopoulou E, Tsoulos N, Metaxa-Mariatou V, Tsantikidi A, Kapetsis G, Florou-Chatzigiannidou C, Tsaousis G, et al. Comprehensive tumor analysis by NGS in metastatic breast cancer patients. Cancer Research (SABCS 2022). Abstract P5-13-01.
Ziogas D, Agiannitopoulos K, Pepe G, Potska K, Tsaousis G, Apostolopoulou D, Tsoulos N, Venizelos V, Markopoulos C, et al. 1709P Cascade genetic testing utilized only in 31% of initial families with pathogenic variants in breast cancer genes. Annals of Oncology (ESMO 2022).
2020
Agiannitopoulos K, Pepe G, Papadopoulou E, Tsaousis G, Kampouri S, Maravelaki S, Fassas A, Christodoulou C, Iosifidou R, et al. Splicing variants in hereditary cancer genes: clinical utility of functional RNA analysis. European Journal of Human Genetics (ESHG Virtual 2020). P12.158.A.
2019
Tsaousis GN, Tsoulos N, Papadopoulou E, Agiannitopoulos K, Pepe G, Diamantopoulos N, Floros TI, Iosifidou R, Markopoulos C, Papazisis K, Venizelos V, Xepapadakis G, Banu E, Eniu DT, Stanculeanu D, Ungureanu A, Tansan S, Tekinel M, Yalcin S, Nasioulas G. Multigene panel testing results for hereditary breast cancer in 1325 individuals: Implications for gene selection and considerations for guidelines. Annals of Oncology (ESMO 2019) 30(suppl_5): v25–v54. doi:10.1093/annonc/mdz239.
2018
Tsoulos N, Apessos A, Agiannitopoulos K, Pepe G, Tsaousis G, Kambouri S, Eniu DT, Ungureanu A, Banu E, Ciule L, et al. Analysis of hereditary cancer syndromes by use of a panel of genes: More answers than questions. Cancer Research (SABCS 2018). Abstract P3-03-03.
2013
Theodoropoulou MC, Tsaousis GN, Litou ZI, Bagos PG, Hamodrakas SJ. GPCRpipe: A pipeline for the detection of G-protein coupled receptors in proteomes. Joint 21st ISMB / 12th ECCB, Berlin, Germany.
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Open to scientific collaborations, peer review requests, and discussions on clinical genomics, bioinformatics pipeline development, or AI applications in oncology. Feel free to reach out via LinkedIn or email.
Affiliation
Department of Bioinformatics and AI Applications, Genekor Medical SA, Athens, Greece
LinkedIn
linkedin.com/in/gtsaousis
ORCID
0000-0002-8975-8779