Genotyping and Variant diagnosis



Biotechvana is delighted to offer to its customers data analysis services for calling and annotation of variants in exome/genome/amplicon/transcriptome HTS approaches. Although each study needs to be specified in the context of your experiment design and the species and/or sample in analysis, below we summarize the usual workflow followed by us in these types of studies.

1) Preprocessing of raw data 2) Mapping on reference 3) Alignment post-processing 4) Variant Calling and annotation 5) Filtration and priorization

If you are interested in getting more information about our services for analysis of VariantSeq data, please contact us at biotechvana(at)biotechvana.com and we will be glad to pass you on a quote or organize a personalized meeting with you in order to discuss and evaluate your experiment.

Related publications



  • Arastehfar A, (and 12 coauthors including Hafez A). 2021.Clonal Candidemia Outbreak by Candida parapsilosis Carrying Y132F in Turkey: Evolution of a Persisting Challenge. Front Cell Infect Microbiol;11:676177 .doi: https://dx.doi.org/10.3389%2Ffcimb.2021.676177
  • Trilla-Fuertes L, Gámez-Pozo A, Maurel J. (and 19 coauthors, includind Llorens C). 2021. Description of the genetic variants identified in a cohort of patients diagnosed with localized anal squamous cell carcinoma and treated with panitumumab. Sci Rep 11, 7402 doi: https://doi.org/10.1038/s41598-021-86966-w
  • Arastehfar A, and 18 co-authors (Including Hafez A). 2020. Recent increase in the prevalence of fluconazole-non-susceptible Candida tropicalis blood isolates in Turkey: Clinical implication of azole-non-susceptible and fluconazole tolerant phenotypes and genotyping. Frontiers in Microbiology. https://doi.org/10.3389/fmicb.2020.587278
  • Megri Y, Arastehfar A, Boekhout T, and 7 coauthors (including Hafez A.). 2020. Candida tropicalis is the most prevalent yeast species causing candidemia in Algeria: the urgent need for antifungal stewardship and infection control measures. Antimicrob Resist Infect Control 9, 50. https://doi.org/10.1186/s13756-020-00710-z
  • Arastehfar A, Daneshnia F, Hafez A and 13 co-authors. 2020. Antifungal susceptibility, genotyping, resistance mechanism, and clinical profile of Candida tropicalis blood isolates, Medical Mycology, Volume 58, Issue 6,Pages 766–773, https://doi.org/10.1093/mmy/myz124
  • Trilla-Fuertes L (and 23 Co-authors including Llorens C and Gamez A). 2020. Comprehensive Characterization of the Mutational Landscape in Localized Anal Squamous Cell Carcinoma. Translational Oncology. https://doi.org/10.1016/j.tranon.2020.100778
  • Trilla-Fuertes L (and 23 Co-authors including Llorens C and Gamez A). 2020. Genetic profile and functional proteomics of anal squamous cell carcinoma: proposal for a molecular classification. Mol Cell Proteomics 19(4): 690-700 https://doi.org/10.1074/mcp.RA120.001954



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    Hipra Scientific S.L.U, Polypeptide Therapeutic Solutions S.L., Biotechvana S.L. and Nostrum Biodiscovery constitute the consortium of enterprises participating in the project "Research of a new vaccine for a human respiratory disease", granted by the CDTI (Center for Industrial Technological Development), and supported by the Ministry of Science and Innovation and financed by the European Union – NextGenerationEU. The main objective of this project is to design a safe immunogenic and effective vaccine against the respiratory syncytial virus.

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