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ramprasadn committed Jun 24, 2024
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Expand Up @@ -10,24 +10,24 @@ Table of contents:
- [Run nf-core/raredisease with test data](#run-nf-coreraredisease-with-test-data)
- [Updating the pipeline](#updating-the-pipeline)
- [Run nf-core/raredisease with your data](#run-nf-coreraredisease-with-your-data)
- [Samplesheet](#samplesheet)
- [Reference files and parameters](#reference-files-and-parameters)
- [1. Alignment](#1-alignment)
- [2. QC stats from the alignment files](#2-qc-stats-from-the-alignment-files)
- [3. Repeat expansions](#3-repeat-expansions)
- [4. Variant calling - SNV](#4-variant-calling---snv)
- [5. Variant calling - Structural variants](#5-variant-calling---structural-variants)
- [6. Copy number variant calling](#6-copy-number-variant-calling)
- [7. SNV annotation \& Ranking](#7-snv-annotation--ranking)
- [8. SV annotation \& Ranking](#8-sv-annotation--ranking)
- [9. Mitochondrial annotation](#9-mitochondrial-annotation)
- [10. Mobile element calling](#10-mobile-element-calling)
- [11. Mobile element annotation](#11-mobile-element-annotation)
- [12. Variant evaluation](#12-variant-evaluation)
- [13. Prepare data for CNV visualisation in Gens](#13-prepare-data-for-cnv-visualisation-in-gens)
- [Run the pipeline](#run-the-pipeline)
- [Direct input in CLI](#direct-input-in-cli)
- [Import from a config file (recommended)](#import-from-a-config-file-recommended)
- [Samplesheet](#samplesheet)
- [Reference files and parameters](#reference-files-and-parameters)
- [1. Alignment](#1-alignment)
- [2. QC stats from the alignment files](#2-qc-stats-from-the-alignment-files)
- [3. Repeat expansions](#3-repeat-expansions)
- [4. Variant calling - SNV](#4-variant-calling---snv)
- [5. Variant calling - Structural variants](#5-variant-calling---structural-variants)
- [6. Copy number variant calling](#6-copy-number-variant-calling)
- [7. SNV annotation \& Ranking](#7-snv-annotation--ranking)
- [8. SV annotation \& Ranking](#8-sv-annotation--ranking)
- [9. Mitochondrial annotation](#9-mitochondrial-annotation)
- [10. Mobile element calling](#10-mobile-element-calling)
- [11. Mobile element annotation](#11-mobile-element-annotation)
- [12. Variant evaluation](#12-variant-evaluation)
- [13. Prepare data for CNV visualisation in Gens](#13-prepare-data-for-cnv-visualisation-in-gens)
- [Run the pipeline](#run-the-pipeline)
- [Direct input in CLI](#direct-input-in-cli)
- [Import from a config file (recommended)](#import-from-a-config-file-recommended)
- [Best practices](#best-practices)
- [Core Nextflow arguments](#core-nextflow-arguments)
- [`-profile`](#-profile)
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