Exome sequencing
Analysis of coding regions for studies of rare variants, phenotypic cohorts, cases and families, with processing strategy defined by project.
Research Services
From scientific question to genomic analysis.
Exome, genome, transcriptome, long-read sequencing by ONT and PacBio and variant analysis with the NeoVar software in custom-designed projects.
- DNA
- Exome and genome
- RNA
- Transcriptome
- Long-read
- ONT and PacBio
- Analysis
- Software NeoVar
Hireable Capabilities
A strategy for each question and type of data.
Services can be contracted independently or combined into a single flow, depending on the study's objectives, samples and deliverables.
Genome sequencing
Broader investigation of coding and non-coding regions, including classes of variants compatible with the chosen design and technology.
Transcriptome
RNA sequencing to explore expression, transcripts, splicing, and fusions when the sample, tissue, and scientific question allow.
Long-read by ONT
Long reads with Oxford Nanopore Technologies to address complex regions, phase, structural variants, and other objectives defined in the protocol.
Long-read by PacBio
HiFi readings for projects that benefit from high reading accuracy, resolution of complex regions, phase and structural variants.
Analysis with NeoVar
Analysis software to annotate, filter, prioritize and review variants, organizing the curation of cases and cohorts with traceability.
Project flow
From the briefing to the data delivered.
Each step is recorded in the scope so that technical decisions, responsibilities and deliverables remain clear.
- 01
Scientific briefing
Objective, hypothesis, cohort, available samples, term and intended use of data.
- 02
Feasibility and design
Technology selection, quality criteria, analysis, deliverables and technical proposal.
- 03
Receipt and quality
Conference, traceability and evaluation of samples according to the agreed protocol.
- 04
Processing and sequencing
Preparation and execution on the platform defined for the study.
- 05
Bioinformatics and NeoVar
Processing, quality control and analysis of variants according to the contracted pipeline.
- 06
Delivery and support
Files, processed results, report or technical meeting according to the approved scope.
Before the proposal
Bring up the issue before choosing the platform.
An initial conversation avoids hiring more data than the study needs — or technology that does not respond to the hypothesis.
Objective and hypothesis.
Describe the phenomenon to be investigated, the type of comparison and the expected use of the results.
Samples and cohort.
Enter origin, type, quantity, conservation, number of cases and available metadata.
Analysis and deliverables.
Define whether the project needs primary data, processed files, prioritized variants, reporting or technical support.
Governance
Ethics and data are part of the design.
Projects with human samples or data need to consider consent, applicable approvals, privacy, security, and intended use from the outset.
- 01
Ethical documentation
The scope identifies the approvals, consents, and responsibilities required for the project.
- 02
Data processing
Access, transfer, retention and delivery format are aligned according to LGPD and applicable requirements.
- 03
Clinical use
Research results do not automatically become diagnostic findings; eventual clinical use requires appropriate process and validation.
Frequently asked questions
Before requesting a proposal.
Is it possible to combine more than one technology?
Yes. Exome, genome, transcriptome and long-read can be combined when complementary data helps answer the study question. Feasibility is assessed per project.
What is the difference between ONT and PacBio?
The platforms have different reading characteristics, accuracy, performance and experimental design. The choice considers the region, variants, samples and expected deliverable.
Can NeoVar be part of the delivery?
Yes. The scope may include analysis and prioritization of variants with NeoVar, in addition to the processed files or results defined in the proposal.
What information do I need to send for a quote?
Share objective, number and type of samples, technology of interest, desired analysis, timeline, deliverables, and known ethical or regulatory requirements.
Is there a standard deadline?
No. The timeline depends on the cohort, sample quality, platform, depth, analysis and deliverables. The estimate is formalized after the technical evaluation.
New project
Tell us the question the data needs to answer.
Send the objective, available samples and expected deliverables to begin the technical-scientific evaluation.
