Clinical Bioinformatics

Expert level data analysis

Focus on your patients and research — let ICBL assist with your data analysis. With our experience and instruments, your lab will save time on bioinformatics to solve your high priority tasks
The ICBL team of clinical bioinformaticians, variant scientists, and medical doctors has extensive clinical experience with thousands of cases analyzed for our customers. Together we reach goals whether it is efficient routine analysis of genomic alterations causing known hereditary diseases or creating new algorithms and software for analyzing NGS data.
exomes, genomes and gene panels analyzed
new collaborations with clinical labs in 2022
years of experience in clinical genomics
publications in peer-reviewed journals
  • NGS data and variant analysis for monogenic diseases and oncology
    Outsource bioinformatics data analysis or get your software customized including back-end pipeline and variant visualization. Your dataset will be analyzed according to the latest international recommendations and with the highest accuracy.
  • Get your software and algorithms optimized for various tasks
    Discuss your projects with us and get software developed specifically for your needs. We have experience in developing algorithms for reproductive genomics (NIPT/NIPS, PGS) as well as routine lab tasks like sample tracking and primer design automation.
  • Create internal database of genomic variations and more
    Access your data easily and implement a user-friendly interface to simplify data analysis. We realize the complexity of clinical genomics and know how to organize and curate data. Proper software can speed analysis of routine cases by up to 10-fold.
  • Outsource your bioinformatics research
    Bioinformatics provides essential tools for clinical genetics, microbiology and many other biological fields. However, not every lab has a bioinformatics core – this is when you can opt for a contract research organization. ICBL has significant experience in genomics working as CRO with many clinical and research labs.

Selected publications

Marakhonov AV, Přechová M, Konovalov FA, Filatova AY, Zamkova MA, Kanivets IV, Solonichenko VG, Semenova NA, Zinchenko RA, Treisman R, Skoblov MY. Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia. Clin Genet. 2021

Scala M, Chua GL, Chin CF, ..., Konovalov F, Lozier E, et al. Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features [published online ahead of print, 2020 Jun 22]. Eur J Hum Genet. 2020

Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. Orphanet J Rare Dis. 15(1):207, 2020

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, et al. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Genetics in Medicine 21(4):1008-1014, 2019

Lozier ER, Konovalov FA, Kanivets IV, Pyankov DV, Koshkin PA, Baleva LS, Sipyagina AE, Yakusheva EN, Kuchina AE, Korostelev SA. De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features. Journal of Human Genetics, 63(8):919-922, 2018

Zernov NV, Skoblov MY, Marakhonov AV, Shimomura Y, Vasilyeva TA, Konovalov FA, et al. Autosomal recessive hypotrichosis with woolly hair caused by a mutation in the keratin 25 gene expressed in hair follicles. J Invest Dermatol, 136(6): 1097-105, 2016
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