Barış Salman
Curriculum vitae
E-mail Phone Website
Github Linkedin Biostars Orcid

Technical skills

Wet lab and Bioinformatics

DNA/RNA/Protein Isolation, quantative/qualitative PCRs, Blotting, Cytogenetics and Karyotyping Sequencing WGS, WES, Panels, RNAseq, scRNAseq, Sanger
Functional Studies Cell Culture, in vivo models, Microscopy Micro-arrays Genotyping, Expression
Genetic Engineering Recombinant DNA technologies    

Computers and Data Analyses

Development Python, R, Unix Shell Analysis Python Scientific Toolkit(numpy, pandas, scipy etc.), R language, Shell Scripting, Bioinformatic tools
      Machine Learning, PCA, Clustering
Workflow Linux, Doom Emacs, Git, Jupyter Statistics and Probability Hypothesis testing, Bayesian Theorem, Data distributions
Writing Orgmode, Zotero, Bibtex, LaTeX Visualization Matplotlib, Plotly/Dash, LaTeX
Web Development Django, Javascript    


Doctorate, 2021–2024 Genetics, Institute of Health Sciences, Istanbul University, Turkey GPA 3.5
Thesis Work in progress  
Adviser Prof. Dr. Sibel Uğur İşeri  
Notable Courses Advanced Molecular Genetics, Mendelian and non Mendelian Diseases, Chromosomal Diseases, Systems Biology  
Master, 2016–2019 Genetics, Institute of Health Sciences, Istanbul University, Turkey GPA 2.14
Thesis Study of Split Hand/Foot Malformation with Genomic Techniques and Bioinformatic Approaches  
Adviser Assoc Prof. Dr. Sibel Uğur İşeri  
Notable Courses Bioinformatics, Genetic Counseling, Medical Genetics, Hospital Rotation for Genetic Counseling  
Bachelor, 2011–2016 Molecular Biology and Genetics, Istanbul University, Turkey GPA 2.44
Thesis Metabolic Regulation in Prokaryotes with Small Non-Coding RNAs  
Adviser Asst. Prof. Dr. Semian Karaer Uzuner  
Notable Courses Methods Used in Molecular Biology(lab), Molecular Genetics, Genetic Engineering  


Company Refgen Biotechnology Development of platform for bioinformatics
Date Mar 2021–Ongoing Pipeline research and development
Position Genetics and Bioinformatics Specialist  
Company Gen-Era Diagnostics Development of pipelines for NGS
Date Oct. 2018–Mar 2021 Variant pathogenity classification automatization
Position Genetics and Bioinformatics Specialist  
Company Aktif Gen Development of bioinformatic pipelines
Date Jan. 2018–Oct 2018  
Position R&D Personnel  

Internships & Rotations

Genetic Counseling Fall 2018
rotation IU Cerrahpaşa, Department of Pediatric Genetics and Teratology
Genetic Counseling Spring 2018
rotation IU Cerrahpaşa, Department of Medical Genetics
Cell Culture August 2016
internship IU Cerrahpasa Department of Medical Biology
Genomics June-July 2015
internship IU A.S. Institute of Exprmental Medicine Department of Genetics
Cytogenetics June-July 2014
internship IU Department of Medical Genetics
Molecular Dynamics 2012-2013
internship IU Faculty of Science Quantum Technologies Laboratory


Use and care of Mar 21 - Apr 08
laboratory animals IU HADYEK 46. Laboratory Animal Use Training
Liquid handling 2-5 November 2021
robot Hamilton Venus Online Advanced Software Training
  9-12 August 2021
  Hamilton Venus Online Basic Software Training


  1. Mercan S, Akcakaya NH, Salman B, Yapici Z, Ozbek U, Ugur Iseri SA. Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity. Genes Genom. Published online November 12, 2022. doi:10.1007/s13258-022-01344-8
  2. Oguz-Akarsu E, Salman B, Ugur-Iseri S, Baykan B. An Extraordinary EEG Phenomenon Misdiagnosed as Nonconvulsive Status Epilepticus: Frequent Subclinical Periodic Discharges Terminated by Sudden Auditory Stimuli. Clin EEG Neurosci. Published online October 5, 2022:15500594221129964. doi:10.1177/15500594221129965
  3. Salman B., Yucesan E., Samanci B., Bilgic B., Hanagasi H., Gurvit H., Ozbek U., Ugur Iseri S. Combined Analysis Of Linkage And Whole Exome Sequencing Reveals CIC As A Candidate Gene For Isolated Dystonia. Journal of Istanbul Faculty of Medicine. 2021;84(4):457-463. doi:10.26650/IUITFD.2021.913346
  4. Haryanyan G, Ozdemir O, Tutkavul K, Salman B, et al. The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. J Hum Genet. 2021;66(12):1145-1151. doi:10.1038/s10038-021-00944-8
  5. Akçakaya NH, Salman B, Ugur İşeri SA., et al. A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis. Neuromolecular Med. 2019;21(1):54-59. doi:10.1007/s12017-018-08522-6
  6. Bekdik Şirinocak P, Salman B, Kesim FY, Bebek N, Baykan B, Ugur İşeri SA. Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey. tnd. 2019;25(4):233-236. doi:10.4274/tnd.galenos.2019.61214

in pipeline

  • Exome sequencing reveals a treatable neurometabolic origin in two siblings with an undiagnosed form of neurodevelopmental disorder: From exon to neuron (in review)
  • ELP2 Mutation Leads Developmental and Epileptic Encephalopathy: Case Report Consanguineous Family from Turkey and Review of Literature (in review)
  • Variant Version Control: A Git Framework For Keeping Track Of Variant Annotation Changes (in prep.)



  1. Susgun S., Kesim Y., Salman B., Yucesan E., Khalilov D., Sirin G., Baykan B, Bebek N., Iseri Ugur S., Two candidates bi-allelic variant to neurodevelopmental disorder in a consanguineous family from Turkey, ESHG 2022
  2. Acar A., Say M., Salman B., Dulger M.V., Comparison of Established Microsatellite Instability Detection Tools in Next Generation Sequencing, ESHG 2021
  3. Ugur Iseri S., Akçakaya N. H., Salman B., et al., Exome Sequencing Identifies a FBXO38 Variant Inherited from a Mosaic Mother to cause Distal Hereditary Neuronopathy Type IID with Distinct Features, ASHG 2017


  1. Investigation of Gene Variants Associated with Syndromic Intellectual Disability, 7. International Congress of Cerebral Palsy and Developmental Disorders, February 23-25 2018, Istanbul, Turkey


  1. (in review) TUBITAK 1001 Project, Advanced Molecular Autopsy Protocol for Sudden Deaths under 40 Years Research Fellow
  2. 2021-2022 TUBITAK 1501 Project, 3210420, Modeling and Automatic Analysis of Genotype-Phenotype Related Copy Number Variations Researcher
  3. 2021-2022 Research Fund of Istanbul University, ONAP-37862, Transcriptomics Approaches To Biomarker Potential Of B Cell Expression Analyses In Anti-Neuronal Antibody Related Autoimmune Epilepsy Researcher
  4. 2018-2019 Research Fund of Istanbul University, TYL-2018-30315, Study of Split Hand/Foot Malformation with Genomic Techniques and Bioinformatics Approaches Researcher
  5. 2018–2018 TUBITAK 1512 Project, 3210420 Development of Cloud Based Software for Next Generation Amplicon Sequencing Technologies, Jan 2018- Oct 2018 Research Fellow
  6. 2017-2018 Research Fund of Istanbul University, TDP-2017-25510, Genetic Analyses of Progressive Myoclonic Epilepsy Researcher
  7. 2016–2018 TUBITAK 1001 Project, Investigation of Epileptogenesis After Febrile Seizures Research Fellow


VVC Variant Version Control (in development)
  Tool for tracking changes in variant annotation using git.
χΣΔ Cross-symbol checker
  This tool checks Ensembl and NCBI annotation files for different genome versions and shows which gene symbol is used. This way a more appropriate gene set can be used to avoid the false negatives in the variant discovery process.
Dove Downstream VCF Evaluation
  Tool for annotating VCF files, multi genome analysis and filtering variants.
Pigeon Pipelining Genomic Operations
  Tool for pipelining bioinformatics tools written considering NGS applications.
Picus Pointed Interpretation of Clinical Variant Significance
  Tool for classifying sequence variants according to ACMG/AMP criteria.


III. Rare Neurological Diseases Symposium and Neurogenetics Course, Second place project award, Istanbul, Turkey, 2017


  1. 2022 Turkish Society of Medical Genetics, Nov 9-13, Genome-Level Evaluation of Copy Number Changes, One of the Important Risk Factors for Genetic Epilepsy (Oral Presentation)
  2. 2020 ESHG 2020, June 6-9, Virtual Conference, GenerAVI: Variant Interpreter and Genetic Analysis Summary Generator (Poster Presentation)
  3. 2019 7th International Congress of the Molecular Biology Association of Turkey, Sep 27-29, Istanbul, Turkey, PICUS: Pointed Interpretation of Clinical Variant Significance (Poster Presentation)
  4. 2019 Bioinformatics Days III, Gazi University Faculty of Medicine, May 25, Ankara, Turkey, NGS Pipelines with Python (Oral Presentation)
  5. 2019 Erciyes University Faculty of Medicine Genetics Days, February 21-23, Kayseri, Turkey, Making Sense of Human Genome with Databases and Bioinformatic Tools (Oral Presentation)
  6. 2018 IV. Rare Neurological Diseases Symposium and Neurogenetics Course, May 31-July 1, Istanbul, Turkey, Analysis of Neurogenetics Data Interactive Training and Practice (Instructor)
  7. 2018 11. National Epilepsy Congress, May 3–6, 2018, Dalaman, Turkey, Meta Analysis of SCN1A Gene Variants of 114 Patients from Epi25 Exome Data (Oral Presentation)
  8. 2018 7. International Congress of Cerebral Palsy and Developmental Disorders, February 23-25, Istanbul, Turkey, Investigation of Gene Variants Associated with Syndromic Intellectual Disability
  9. 2017 53. National Neurology Congress, November 24–30, Antalya, Turkey, Genomic Approaches to Intellectual Disability Case with Epilepsy (Oral Presentation)
  10. 2017 III. Rare Neurological Diseases Symposium and Neurogenetics Course, July 1–2, Istanbul, Turkey, Profiling Anti-Epileptic Drug Resistance an Genetic Diagnosis with Epilepsy Panel (Poster Presentation)

General skills


Turkish Mother Tongue  
English Advanced Fluent
These are the languages I am still learning  
French Beginner Basic words and phrases
Japanese Beginner Basic words and phrases
Latin Beginner Basic words and phrases