> For the complete documentation index, see [llms.txt](https://help.bioinsight.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.bioinsight.illumina.com/annotation/data-sources/abraom.md).

# ABraOM

### Overview

DRAGEN Annotation provides allele-frequency annotations from [ABraOM](https://abraom.ib.usp.br/index.php), a repository of genomic variants from individuals in São Paulo, Brazil.

{% hint style="info" %}
**Publication**

Naslavsky MS, Santos R, Rudan I, et al. ABraOM: A Brazilian database of genomic variants from whole exome sequenced elderly individuals. *Hum Mutat*. 2017;38(7):751-763. doi:10.1002/humu.23211
{% endhint %}

ABraOM has data for both GRCh37 and GRCh38.

| Assembly | Name          | Description                                                                       |
| -------- | ------------- | --------------------------------------------------------------------------------- |
| GRCh37   | SABE609       | ABraOM dataset for GRCh37, coming from exome samples from 609 individuals         |
| GRCh38   | SABE-WGS-1171 | ABraOM dataset for GRCh38, coming from whole genome samples from 1171 individuals |

### Data input

Below are some examples of entry for SABE609 dataset.

```
Chr	Start	Ref	Alt	PredictedFunc.refGene	Gene.refGene	PredConsequence.refGene	avsnp147	FILTER	CEGH Filter	HomozygousALT count	Hemizygous count	Allele number	Allele ALT count	Frequencies	Cohort
1	13116	T	G	ncRNA_intronic	DDX11L1	NA	rs62635286	LowQual	FDP	2	0	598	6	0.010033	SABE609
1	13244	G	A	ncRNA_exonic	DDX11L1	NA	NA	LowQual	FAB	0	0	456	1	0.002193	SABE609
1	13248	C	G	ncRNA_exonic	DDX11L1	NA	NA	VQSRTrancheSNP99.00to99.90	FAB	0	0	482	2	0.004149	SABE609
1	13273	G	C	ncRNA_exonic	DDX11L1	NA	rs531730856	VQSRTrancheSNP99.00to99.90	WK-LowCall	20	0	600	68	0.113333	SABE609
1	13302	C	T	ncRNA_exonic	DDX11L1	NA	rs180734498	VQSRTrancheSNP99.00to99.90	WK-LowCall	1	0	700	12	0.017143	SABE609
1	13380	C	G	ncRNA_exonic	DDX11L1	NA	rs571093408	VQSRTrancheSNP99.00to99.90	FAB	0	0	514	4	0.007782	SABE609
...
```

As for SABE-WGS-1171.

```
Chr	Start	Ref	Alt	PredictedFunc.refGene	Gene.refGene	PredConsequence.refGene	avsnp150	FILTER	CEGH_Filter	HomozygousALT_count	Hemizygous_count	Allele_number	Allele_ALT_count	Frequencies	Cohort
1	10354	C	A	intergenic	DDX11L1;NONE	dist=NONE;dist=1520	rs1015856060	VQSRTrancheSNP99.80to99.90	FDP	6	0	624	12	0.019231	SABE-WGS-1171
1	10378	CCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAAC-intergenic	DDX11L1;NONE	dist=NONE;dist=1434		PASS	FDP	20	1080	6	0.005556	SABE-WGS-1171
1	10379	CCTAA	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1491		VQSRTrancheINDEL99.00to99.30	FDP	1	0	1190	20.001681	SABE-WGS-1171
1	10384	CCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAAC	-intergenic	DDX11L1;NONE	dist=NONE;dist=1434		PASS	vSR-LowCall	0	0	1042	1	0.000960	SABE-WGS-1171
1	10390	CCCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAAC	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1434		PASS	vSR-LowCall	0	0	838	1	0.001193	SABE-WGS-1171
1	10390	C	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1484	rs766767872	PASS	FDP	1	0	842	4	0.004751SABE-WGS-1171
1	10391	CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAA	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1441		PASS	WK-LowCall	30	0	902	90	0.099778	SABE-WGS-1171
1	10396	AC	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1477		PASS	FDP	0	0	812	1	0.001232	SABE-WGS-1171
1	10398	CCCTAA	-	intergenic	DDX11L1;NONE	dist=NONE;dist=1471		PASS	FDP	9	0	1004	21	0.020916	SABE-WGS-1171
```

### Parsing

From the TSV file, the following columns are parsed out and provided in the annotation output:

| Column               | Description                        | DRAGEN Annotation JSON key |
| -------------------- | ---------------------------------- | -------------------------- |
| HomozygousALT\_count | Homozygous alt allele count number | `homozygote`               |
| Hemizygous\_count    | Hemizygous allele count number     | `hemizygote`               |
| Allele\_number       | Total allele number                | `allAn`                    |
| Allele\_ALT\_count   | Number of alt allele               | `allAc`                    |
| Frequencies          | Frequency of alt allele            | `allAf`                    |

### Output

ABraOM supplementary data uses the `abraom` key in DRAGEN Annotation JSON output. The following example shows the annotation output.

```
"abraom": {
        "homozygote": 532,
        "hemizygote": 0,
        "allAn": 1164,
        "allAc": 1113,
        "allAf": 0.956186
      }
```


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