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teal: update readme
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hongwingl committed Nov 19, 2023
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Expand Up @@ -183,7 +183,7 @@ to fit to longer telomere lengths. We apply the following adjustment separately

For tumor samples, we need to recognise that we are observing a mix of reference and tumor. We use the purity and ploidy obtained from PURPLE, we can solve the following equation for the tumor reference mix.

$$ TumorMixLength = \frac{ TumorLength \times Purity \times Ploidy + RefLength \times (1-purity) \times 2 }{ [Purity \times Ploidy + 2 \times (1-purity)] } $$
$$ TumorMixLength = \frac{ TumorLength \times Purity \times Ploidy + RefLength \times (1-purity) \times 2 }{ Purity \times Ploidy + 2 \times (1-purity) } $$

Rearrangement of this formula gives the following expression for tumor length:

Expand Down Expand Up @@ -213,7 +213,8 @@ The following soft filters are applied:
| duplicate | Must not be a duplicate of another nearby breakend | =FALSE |


The following regions are blacklisted from calling telomeric rearrangements as they are frequently found to have telomeric sequences in recurrent artefacts across samples (currently for hg19/grch37 assembly only)
The following regions are blacklisted from calling telomeric rearrangements as they are frequently found to have telomeric sequences in
recurrent artefacts across samples (currently for hg19/grch37 assembly only)

| Chromosome | Start Position | End Position |
|------------|----------------|--------------|
Expand Down Expand Up @@ -249,7 +250,8 @@ The following regions are blacklisted from calling telomeric rearrangements as t

## Outputs

The outputs of TEAL is a 'telbam' file (ie a bam restricted to fragments where at least 1 read contains telomeric content), a file which details the estimated telomeric length and content and finally a file which predicts the telomeric reararrangements
The outputs of TEAL is a 'telbam' file (ie a bam restricted to fragments where at least 1 read contains telomeric content), a file which
details the estimated telomeric length and content and finally a file which predicts the telomeric reararrangements

### Telomeric Length and content
| Column | Description |
Expand Down Expand Up @@ -299,6 +301,11 @@ The outputs of TEAL is a 'telbam' file (ie a bam restricted to fragments where a
* TEAL could aslo count relatve amount T-Type, C-Type, G-Type and J-Type content per sample (relevant for ALT pathway identification)

# Version History and Download Links
- [1.2.0](https://github.com/hartwigmedical/hmftools/releases/tag/teal-v1.2.0)
- Update to match cobalt v1.16+.
- Use mean read depth and gc50 read depth instead of read count per 1000 bases window.
- removed reference / tumor mean_reads_per_kb and gc50_reads_per_kb command line arguments in standalone mode
- added reference / tumor mean_read_depth and gc50_read_depth command line arguments in standalone mode
- [1.1.0](https://github.com/hartwigmedical/hmftools/releases/tag/teal-v1.1.0)
- Update to use Smith-Waterman instead.
- Update to parse newer inputs from purple and cobalt
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