Genomics & regulation
Characterize tumor-associated sequence variation and genomic patterns for research interpretation.
Analyses are tailored to your experimental design, data quality and research question. The workflow and deliverables are agreed following project review.
Analysis modules
Review of variant quality, sequencing support and tumor–normal design.
Somatic variant detection when appropriate read-level data are supplied.
Functional annotation of SNVs and indels.
Cohort mutation landscapes, co-occurrence and mutual-exclusivity exploration.
Copy-number analysis from suitable coverage and allelic data.
Structural-variant and fusion interpretation.
Mutational signatures with sufficiency and stability checks.
Tumor mutational burden or MSI analysis only when assay requirements are met.
Clonal architecture, pathway context and public-cohort comparisons where supported.
Data and metadata
VCF or MAF plus reference genome and filtering history; BAM/CRAM and coverage information for tasks requiring read-level evidence; matched normal and assay design where relevant.
Proposed deliverables
Annotated variants; cohort oncoplots; eligible copy-number/signature summaries; transparent filtering and reference documentation.
Interpretation and feasibility
A VCF alone does not enable every listed task. TMB needs the callable assay denominator; MSI and copy-number estimates require suitable inputs. Do not promise clinical actionability or diagnostic certification.
Methods and references
Methods, reference resources and software are selected for each project after protocol, feasibility and licence review. Applicable versions, references and interpretation limits are documented in the agreed workflow.