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Bioinformatics Platform

Bioinformatics Platform

Transforming raw sequencing data into actionable biological insights — from variant calling to clinical-grade genetic reports

The Bioinformatics Platform at the Bioscience CoreLab provides state-of-the-art computational analysis, data management, and software solutions to support cutting-edge genomic research. Operating in seamless integration with our advanced sequencing and genotyping facility, we offer robust, end-to-end bioinformatics support for researchers, clinicians, and industry partners. From initial experimental design to publication-ready figures, our platform ensures the extraction of highly accurate, reproducible data.

Core Services & Workflows

We offer customized, scalable data analysis pipelines tailored to a wide range of genomic applications.

High-Throughput Genomic Analysis

Comprehensive pipelines for Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), and targeted sequencing. Services include de novo assembly, read mapping, variant calling (SNPs, Indels, SVs), and annotation for clinical genetics and precision medicine.

Metagenomics & Microbial Ecology

Advanced taxonomic profiling and functional analysis of complex microbial communities. We provide robust workflows for 16S/18S/ITS amplicon sequencing and shotgun metagenomics, supporting both environmental (e.g., soil microbiome) and clinical research.

Microarray & Genotyping Analysis

High-throughput data extraction, quality control, and genotyping analysis for high-density microarrays.

Custom Pipeline Development

Development of bespoke bioinformatics workflows utilizing industry-standard scripting, containerization (e.g., Docker), and specialized software (e.g., CLC Genomics Workbench, QIIME 2) to meet unique research objectives.

What Sets Us Apart

Beyond standard bioinformatics analysis, our platform offers two flagship capabilities rarely available on the African continent.

Flagship Service

Comprehensive Personal Genetic Report

We generate in-depth, individual genetic reports derived directly from Whole Genome Sequencing (WGS) data. Unlike consumer-grade genotyping chips, our reports leverage the full depth of WGS to deliver clinically meaningful and lifestyle-relevant insights across four integrated modules:

Ancestry & Population Genetics — Detailed ancestry composition using global reference panels (HGDP, 1000 Genomes), admixture proportions, and population-level genetic context
Pharmacogenomics (PGx) — Clinically actionable drug-gene interactions based on CPIC guidelines, including metabolizer status for key enzymes (CYP2D6, CYP2C19, CYP3A5, etc.)
Nutritional Genetics — Insights into nutrient metabolism, dietary sensitivities (lactose, gluten, caffeine), vitamin requirements, and personalized recommendations
Athletic & Performance Genetics — Genetic markers associated with muscle composition, endurance, injury predisposition, and recovery profiles

Each report is generated through automated, validated bioinformatics pipelines and undergoes expert review. This service is ideal for precision medicine initiatives, wellness programs, and individuals seeking actionable genomic insights.

AI-Powered

Emedgene — AI-Driven Variant Interpretation

Our platform is equipped with Emedgene, Illumina's advanced tertiary analysis software powered by Explainable Artificial Intelligence (XAI). Emedgene transforms the traditionally time-intensive process of variant interpretation into a streamlined, scalable workflow.

Automated Variant Prioritization — AI-driven ranking of clinically relevant variants from WGS, WES, and panels, reducing manual curation time by up to 75%
Explainable AI — Every hypothesis backed by transparent literature and database evidence for full traceability
ACMG Classification — Automated classification of SNVs, indels, CNVs, and SVs following ACMG/AMP standards
DRAGEN Integration — Seamless end-to-end DNA-to-report workflow from sequencing instrument to interpreted results

Emedgene positions the BCL Bioinformatics Platform as one of the few facilities in Africa offering AI-enhanced genomic interpretation at clinical-grade quality.

Computational Infrastructure

Handling the massive data volumes generated by modern sequencing instruments requires exceptional computational power. Our platform is backed by world-class IT infrastructure.

High-Performance Computing

Seamless integration with the UM6P Toubkal supercomputer, one of Africa's most powerful HPC systems, utilizing advanced SLURM job scheduling to process complex genomic algorithms at unprecedented speeds.

Secure Data Storage

High-capacity, enterprise-grade NAS environments ensure secure transfer, backup, and long-term archiving of sensitive genomic data, with strict adherence to data privacy and security protocols.

Software & Tools

Industry-standard bioinformatics stack (BWA, GATK, Samtools, STAR, PLINK, ADMIXTURE, Kraken2, QIIME 2, CLC Genomics) with containerized, reproducible workflows via Docker, Singularity, and Conda.

Interested in This Platform?

From genomic analysis to AI-driven variant interpretation, our bioinformatics team is ready to support your research with cutting-edge computational solutions.

Get in Touch