Report ID [TBO/RPT/YYYY/NNNN]
Version [v1 · final]
Issued [DD Month YYYY]
info@tribro-omics.com · +91 86603 08678 · tribro-omics.com
RNA Sequencing Analysis Report
Transcriptome analysis: expression, differential expression, splicing and fusions
1Patient and sample
| Patient name | [Surname, First name] |
|---|
| Patient ID / MRN | [ID] |
|---|
| Date of birth | [DD Month YYYY] |
|---|
| Sex | [Female / Male / Unknown] |
|---|
| Sample ID | [TBO-S-YYYY-NNNN] |
|---|
| Sample type | [Tissue / cells / extracted RNA] |
|---|
| Collected | [DD Month YYYY] |
|---|
| Received | [DD Month YYYY] |
|---|
| Referring clinician | [Name, institution] |
|---|
| Clinical indication | [Phenotype summary; HPO terms, e.g. HP:0001250] |
|---|
2Test information
| Product | RNASEQ Tribro — transcriptome analysis |
|---|
| Reference | GRCh38 with [GENCODE release] annotation |
|---|
| Study design | [Groups, number of samples, replicates] |
|---|
| Library type | [Poly-A / total RNA (rRNA-depleted) / single-cell] |
|---|
| Questions addressed | [Differential expression / fusions / aberrant splicing / outlier expression] |
|---|
| Pipeline version | [TBO-RNA vX.Y] |
|---|
Result
[Positive: pathogenic / likely pathogenic variant identified that explains the phenotype] / [Negative: no reportable variant identified] / [Inconclusive: variant of uncertain significance]
3Summary of findings
[Main findings in two or three sentences: number of differentially expressed genes, key pathways, fusions or splicing events.]
4Differentially expressed genes (top)
| Gene | log2 fold change | Adjusted p-value | Mean expression | Direction |
|---|
| [GENE] | [ ] | [ ] | [ ] | [Up / Down] |
5Pathway enrichment
| Pathway / gene set | Genes | Adjusted p-value | Direction |
|---|
| [Pathway name, database] | [n] | [ ] | [Up / Down] |
6Gene fusions
| Fusion | Breakpoints (GRCh38) | Supporting reads | Frame | Known? |
|---|
| [GENE1::GENE2] | [chrN:pos / chrN:pos] | [split / spanning] | [In-frame / out-of-frame] | [COSMIC / novel] |
7Quality metrics
| Metric | Result | Acceptance criterion |
|---|
| RNA integrity (RIN / DV200) | [ ] | RIN ≥ 7 or DV200 ≥ 30 % (FFPE) |
| Reads per sample | [ ] million | ≥ 30 million |
| Uniquely mapped reads | [ ] % | ≥ 80 % |
| rRNA fraction | [ ] % | < 10 % |
| Sample correlation / outliers | [Pass / samples flagged] | No unexplained outliers |
8Methods
Libraries were prepared with [kit] and sequenced on [platform]. Reads were aligned to GRCh38 with [aligner, version] and quantified with [tool, version]. Differential expression was tested with [method] and p-values adjusted (Benjamini–Hochberg). Fusions were detected with [tool] and splicing analysed with [tool]. Pathway enrichment used [method, database version].
9Limitations
- Expression reflects the sampled tissue and time point; differences in cell composition can drive apparent expression changes.
- Statistical power depends on the number of replicates; small effects may be missed.
- Fusion and splicing calls should be confirmed by an orthogonal method before clinical use.
10Recommendations
- Validate key genes by qPCR or an orthogonal assay.
- Integrate with genomic findings (WES/WGS) where available.
11Sign-off
| Role | Name and qualification | Date |
|---|
| Analysed by (bioinformatics) | [Name, qualification] | [DD Month YYYY] |
| Reviewed by (clinical scientist) | [Name, qualification] | [DD Month YYYY] |
| Authorised by (laboratory director) | [Name, qualification] | [DD Month YYYY] |
12Important information
This report is intended for the referring clinician and must be interpreted together with the clinical findings, family history and other test results. Variant classification follows the ACMG/AMP 2015 standards (Richards et al., Genet Med 2015) and ClinGen Sequence Variant Interpretation recommendations. Classifications reflect the evidence available on the date of issue and may change. Genetic counselling is recommended when results are discussed with the patient. Report status: [Clinical / Research use only].