Genomics

Sycomia provides specialized bioinformatics services for DNA-based genomics projects. We support variant detection, genome assembly, annotation, and comparative genomics, offering end-to-end analysis tailored to your biological questions. Our team ensures accurate, reproducible, and publication-ready results.

Variant Analysis

From Whole Genome or Whole Exome sequencing, we identify variants (single nucleotides to more complex variants) with our validated dedicated pipeline. We deliver annotated, filtered variant datasets ready for downstream interpretation, whether for research, diagnostics, or population studies for example.

We provide comprehensive variant annotation and prioritization to identify biologically or clinically relevant mutations. Using curated databases and predictive tools, we classify variants by impact, frequency, and pathogenicity, streamlining discovery and guiding downstream validation or interpretation.

Sycomia performs effector variant detection through statistical analysis of large genomic cohorts. Using GWAS and fine-mapping approaches, we identify variants significantly associated with traits or diseases and prioritize those with likely functional impact.

We can extract and interpret mutational signatures based on trinucleotide context (e.g., C>T at ACG) using somatic mutation data. These signatures reveal underlying mutagenic processes.

Sycomia offers population genomics services to analyze genetic variation across populations. We provide insights into population structure, diversity, and evolutionary patterns.

ctDNA & Liquid Biopsy

We offer cutting-edge circulating tumor DNA (ctDNA) analysis using ultra-deep sequencing combined with Unique Molecular Identifier (UMI) technology. This approach enables highly sensitive and accurate detection of rare mutations and low-frequency variants in blood samples by eliminating sequencing errors. Our advanced method supports precise monitoring of cancer dynamics, treatment response, and minimal residual disease.

We minimize errors and achieve accurate variant detection down to about 1% frequency. This enables detailed insights into tumor genetics from a simple blood sample, supporting personalized cancer care and real-time disease monitoring.

Tumor burden analysis measures the amount of cancer cells present in the body by detecting and quantifying tumor-derived DNA in the bloodstream. This helps track how much tumor quantity is left during or after treatment, providing important information on disease status and progression.

Sequencing & Assembly

Sycomia offers comprehensive whole genome assembly using short, long, and hybrid sequencing reads. By combining high-accuracy short reads with long reads that span complex regions, our hybrid assembly approach delivers precise and complete genome reconstructions.

We provide advanced pan-genome analysis by assembling and comparing the full set of genes across multiple genomes within a species. This approach uncovers core and variable genetic elements, revealing diversity, evolutionary patterns, and unique traits.

We offer haplotype phasing services that determine which genetic variants are inherited together on the same chromosome. By resolving the arrangement of variants, our analysis provides clearer insights into genetic structure, disease associations, and inheritance patterns, enhancing the accuracy of genomic studies.

 

Using cutting-edge sequencing technologies and tailored assembly pipelines, we reconstruct high-quality genomes from scratch, enabling discovery of novel genes, genetic variation, and evolutionary insights for understudied species.

Sycomia provides comprehensive genome annotation services, identifying gene locations and predicting their biological roles. Our integrated approach combines computational tools and databases to deliver accurate maps of genes, regulatory elements, and pathways, supporting deeper understanding of genome function.

Comparative Genomics

We offer precise identification of orthologs and paralogs. This analysis helps unravel gene evolution, functional conservation, and species-specific adaptations, supporting comparative genomics and evolutionary studies.

Sycomia provides detailed analysis of synteny, the conserved order of genes between genomes and detects genome rearrangements such as inversions, translocations, and duplications. This helps reveal evolutionary relationships, structural variations, and functional impacts across species or populations.

Sycomia integrates genome-wide data to reconstruct evolutionary relationships between species or populations. Our phylogenomic analyses combine multiple genes or whole genomes to build accurate phylogenetic trees, shedding light on evolutionary history, speciation, and genetic diversity.

Metagenomics

Sycomia performs taxonomic profiling to identify and quantify microbial species within complex metagenomic samples. Using high-throughput sequencing and robust bioinformatics pipelines, we reveal the composition and diversity of microbial communities, supporting research in health, ecology, and environmental monitoring.

We offer functional profiling services to uncover the metabolic potential and biological roles of microbial communities. By analyzing metagenomic data, we identify genes, pathways, and functional modules, providing insights into community function, ecosystem processes, and host-microbe interactions.

 

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