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Update README.md
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lukfor authored Oct 21, 2024
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Expand Up @@ -150,7 +150,7 @@ The `populations` section contains a dictionary mapping population identifiers t
| `name` | The label of the population. (e.g. EUR) |
| `samples` | Number of samples in the reference panel |

Note: the population id has to be the same as in the legend files.
Note: the population id has to be the same as in the sites files.

#### Quality Filters

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In the example YAML configuration provided, you may have noticed the presence of the `$chr` variable in some URLs. This variable is a placeholder for the chromosome number and will be replaced by the Nextflow pipeline.

### Legend Files
### Sites Files

A legend file is a tab-delimited file consisting of 5 columns (`id`, `position`, `a0`, `a1`, `all.aaf`).
A site file is a tab-delimited file consisting of 8 columns: **ID**, **CHROM**, **POS**, **REF**, **ALT**, **AAF_EUR**, **AAF_ALL**, **MAF_EUR**, and **MAF_ALL**. The first five columns (**ID**, **CHROM**, **POS**, **REF**, and **ALT**) are required, while the **Allele Frequency (AAF)** and **Minor Allele Frequency (MAF)** columns are optional.

The optional **AAF** and **MAF** columns provide allele frequency information for different populations supported by the reference panel. Specifically, **AAF_EUR** and **MAF_EUR** represent allele frequencies for the European population, while **AAF_ALL** and **MAF_ALL** represent allele frequencies for all populations combined.

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