icon Analysis Areas Workflows are fundaments of the IntelliseqFlow platform and their development is the core activity of the Intelliseq company. We are focused on providing solutions based on the latest standards and recommendations. The list of already developed workflows exceeds 100, including pipelines, modules, and tasks. The number is continuously growing, thanks to our R&D activities. Below is the most important information about the analysis areas.
  • Clinical Application | Germline testing Created with GATK best practices and ACMG recommendations workflows for phenotype-based custom panels or fixed panels grouped in 22 areas: ACMG Incidental Findings | Cancer Germline | Cardiovascular disorders | Ciliopathies | COVID-19 research | Dermatological disorders | Dysmorphic and congenital abnormality syndromes | Endocrine disorders | Gastroenterological disorders | Growth disorders | Haematological and immunological disorders | Haematological disorders | Hearing and ear disorders | Metabolic disorders | Neurology and neurodevelopmental disorders | Ophthalmological disorders | Rare Diseases | Renal and urinary tract disorders | Respiratory disorders | Rheumatological disorders | Skeletal disorders | Tumour syndromes
    How do we classify variants according to the ACMG/AMP criteria? Check the details: "Variants classification according to the ACMG/AMP criteria"
  • Clinical Application | Somatic cancer Created with GATK best practices and ACMG recommendations workflows grouped in 27 areas: Acute Myeloid Leukemia | Acute Promyelocytic Leukemia | Breast Cancer | Cancer Chronic Lymphocytic Leukemia | Chronic Myeloid Leukemia | Chronic Myelomonocytic | Leukemia | Colorectal Cancer | Essential Thrombocythemia | Female Reproductive Organ Cancer | Gastric Adenocarcinoma |Glioblastoma | Hematologic Cancer | Her2-receptor Positive Breast Cancer | Lung Non-small Cell | Carcinoma | Melanoma | Myelofibrosis | Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of PDGFRA, PDGFRB, And FGFR1s | Myeloproliferative Neoplasm | Myxoid Liposarcoma | Neuroblastoma | Oropharynx Cancer | Ovarian Sex-cord Stromal Tumor | Skin Melanoma | Synovial Sarcoma | Transitional Cell Carcinoma
  • Clinical Application | Pharmacogenomics Created with Clinical Pharmacogenetics Implementation Consortium (CPIC) recommendations workflows for organism response to 28 drugs: Amitriptyline | Capecitabine | Desipramine | Imipramine | Ondansetron | Sertraline | Trimipramine | Atazanavir | Escitalopram | Doxepin | Ivacaftor | Paroxetine | Simvastatin | Tropisetron | Azathioprine | Clomipramine | Fluorouracil | Mercaptopurine | Phenytoin | Tacrolimus | Voriconazole | Codeine | Clopidogrel | Fluvoxamine | Nortriptyline | Ribavirin | Thioguanine | Warfarin
  • Patient-initiated testing | Polygenic Scores Catalog Ready to use, custom developed, computational models for below listed polygenic scores: Nutrition: Magnesium level | Lactose intolerance | BMI | Vitamin E level | Fasting glucose | Homeostasis | Vitamin B12 level | Vitamin D level | Caffeine sensitivity | Folate level | Vitamin B6 level | Cancer: Breast cancer | Prostate Cancer | Lung Cancer | Melanoma | Cardio: Coronary heart disease | Coronary artery disease | Iron overload | Heart Attack | Heart rate increase in response to exercise | Circadian rhythms | Blood pressure | High - density lipoprotein cholesterol HDL | Low-density lipoprotein cholesterol LDL | Metabolic syndrome | Other: Severe COVID-19 with Respiratory Failure | Depression | CRP Level | Alcohol-related liver cirrhosis | Bone Density | Type 1 diabetes | Type 2 diabetes | Telomere length | Parkinson | Alcohol dependence | Alzheimer’s Disease |
  • Research Application Ready to use, custom developed workflows: RNA-seq paired-end | RNA-seq single-end | small RNA-seq |
    NGS panel research analysis | WES research analysis | WGS research analysis |
    WGS structural variants research analysis
  • Utilities Ready to use bioinformatics tools: WES/WGS QC report
    Liftover tool for .bed files [GRCh37(hg19) to GRCh38(hg38)]
    Custom gene panel generator
How can we help you?
Intelliseq is a team of experienced scientists, geneticists, bioinformaticians and software engineers. We have already solved many problems for our clients globally. Let us help you with yours.
icon Technology Overview

We use state-of-the-art technology that ensures high speed and accuracy of analysis through automation:

  • cloud/on-premise portability (scale-up from small to larger labs/assistance on all stages of growth),
  • versioning/automatic documentation (for quality assurance, complete reproducibility and FDA/EMA compatible documentation) [WDL/BCO],
  • automated data actualization (for up-to-date annotations and variant classification) [Docker],
  • UI/API access (for the fastest onboarding process on the market and further LIMS integration).