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 extends 100 workflows, including pipelines, modules, and tasks. The number is continuously growing, thanks to our R&D activities. Below are selected information about the technology we use:
Created with GATK best practices and ACMG recommendations target-seq workflows for phenotype-based custom panels or 237 fixed panels grouped in 16 areas:
Hematological diseases | Neurodevelopmental diseases |
Kidney diseases | Neuromuscular diseases | Cardiovascular diseases | Genetic ear diseases | Liver diseases | Hereditary cancers | Bone diseases | Cliliopathy | Hearing disorders and deafness | Mitochondriopathie | Skin diseases | Connective tissue diseases | Neurodegenerative diseases | Immunological diseases
Created with Clinical Pharmacogenetics Implementation Consortium (CPIC) recommendations target-seq 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
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 | Cardio: 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 | Cancer: Breast cancer | Prostate Cancer | Lung Cancer | Melanoma | Other: Alzheimer | Depression | CRP Level | Alcohol-related life cirrhosis | Bone Density | Type 2 diabetes | Telomere length | Parkinson | Alcohol dependence
Ready to use traits implemented from The Polygenic Scores Catalog:
BMI | Coronary heart disease | Coronary artery disease | Breast cancer | ER-positive Breast Cancer | ER-negative Breast Cancer | Type 2 diabetes | Atrial fibrillation | Inflammatory bowel disease | Type 1 diabetes | Alzheimer’s Disease
Type 2 diabetes (based on SNPs involved in ß-cell function) | Type 2 diabetes (based on SNPs involved in insulin resistance)
Intelliseq is a team of experienced scientist, geneticists, bioinformaticians and software engineers. We have already solved many problems for our clients globally.
Let us help you with yours.
1000 Genomes Project phase 3 data, UK10K cohorts data, ExAC consortium data, gnomAD v2.1.1 and v3 data, NHLBI Exome Sequencing Project ESP6500 data, MITOMAP: a human mitochondrial genome database.
Grch38.p2 with a decoy and random contigs, without ALTs and with a pseudoautosomal region on Y chromosome masked is used during the alignment process. Decoy and random contigs are excluded during the downstream analysis.
Human Phenotype Ontology (HPO) with 12,111 different phenotypes and ready to use disease panels eg. Marfan Syndrome (4 genes), Iron deficiency anemia (31 genes), Cardiomyopathy (70 genes), Osteoporosis (414 genes). Online Mendelian Inheritance in Man (OMIM) with all known mendelian disorders and over 15,000 genes.
SIFT, SIFT4G Polyphen2-HDIV, Polyphen2-HVAR, LRT, MutationTaster2, MutationAssessor, FATHMM, MetaSVM, MetaLR, CADD, VEST4, PROVEAN, FATHMM-MKL coding, FATHMM-XF coding, fitCons, LINSIGHT, DANN, GenoCanyon, Eigen, Eigen-PC, M-CAP, REVEL, MutPred, MVP, MPC, PrimateAI, GEOGEN2, ALoFT.
PhyloP, phastCons, GERP++, SiPhy, bStatistic
VEP, SnpEff
ClinVar, HGMD public.