> For the complete documentation index, see [llms.txt](https://help.connected.illumina.com/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://help.connected.illumina.com/tso500/dragen-tso-500-ctdna-guides/dragen-tso-500-ctdna-v2.6/analysis-methods/mapping-and-alignment.md).

# Mapping and Alignment

## DNA Alignment and Read Collapsing

The alignment step uses DRAGEN Aligner with UMI collapsing to align DNA sequences in FASTQ files to the genome. This step combines sets of reads (ie, families) that are grouped together based on genomic locations and UMI tags into representative sequences. This process accurately removes duplicate reads and sequencing errors without losing the signal of very low frequency (< 1%) sequence variations.

This alignment step generates BAM files (\*.bam) and BAM index files (\*.bam.bai) that are saved to the alignment folder. A BAM file is the compressed binary version of a SAM file that is used to represent aligned sequences.

Read collapsing adds the following BAM tags:

* RX/XU: UMI combination. RX is duplicated from XU to satisfy the BAM/SAM format
* XV: Number of reads in the family on one strand.
* XW: Number of reads in the duplex-family or 0 if not a duplex family.


---

# Agent Instructions
This documentation is published with GitBook. GitBook is the documentation platform designed so that both humans and AI agents can read, navigate, and reason over technical content effectively. Learn more at gitbook.com.

## Querying This Documentation
If you need additional information that is not directly available in this page, you can query the documentation dynamically by asking a question.

Perform an HTTP GET request on the current page URL with the `ask` query parameter, and the optional `goal` query parameter:

```
GET https://help.connected.illumina.com/tso500/dragen-tso-500-ctdna-guides/dragen-tso-500-ctdna-v2.6/analysis-methods/mapping-and-alignment.md?ask=<question>&goal=<endgoal>
```

`ask` is the immediate question: it should be specific, self-contained, and written in natural language.
`goal` is optional and describes the broader end goal you are ultimately trying to accomplish on behalf of the user. GitBook uses it to tailor the answer towards what is most useful for that goal.

The response will contain a direct answer to the question and relevant excerpts and sources from the documentation.

Use this mechanism when the answer is not explicitly present in the current page, you need clarification or additional context, or you want to retrieve related documentation sections.
