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1 change: 1 addition & 0 deletions .spelling
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Expand Up @@ -597,6 +597,7 @@ deconvoluting
DMG-H3
gemcitabine
Hematopoiesis
iDAT
Illumina
in-vitro
in-vivo
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Expand Up @@ -124,3 +124,15 @@ If you receive an email from us that your DAA is incomplete, you may edit your D
## Managing your Data Request

Go to our [Managing Data Overview](/genomics-platform/managing-data/overview) documentation page to learn how to check the status of your data request, complete an EDAA draft, upload a revised DAA, and ultimately access your data from your [My Dashboard](https://platform.stjude.cloud/requests/manage) page.

## Unrestricted Data

Certain Data within Genomics Platform is unrestricted, meaning that access is available to all requestors and does not require a data access agreement.

To access this data, please complete the following steps:

1. Create an account on or log in to Genomics Platform.
2. Narrow your selection by filtering to Feature Count Files only and/or iDAT files only and then selecting Request Data at the bottom right of the screen.
3. Choose to vend the data to a new or existing project
4. Submit the request.
5. The data will be vended to your selected project in a folder labeled with the date the data was requested.
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Expand Up @@ -9,6 +9,7 @@ title: Data Sets and Data Access Units
- [Data Set](#data-set)
- [Data Access Committee (DAC)](#data-access-committee-dac)
- [Embargo Date](#embargo-date)
- [Unrestricted Data](#unrestricted-data)
- [List of DAUs](#list-of-daus)
- [List of Data Sets](#list-of-data-sets)

Expand Down Expand Up @@ -62,6 +63,16 @@ Publishing using any of the files _before_ the embargo date has passed is strict
Some Data, including Data funded by the NIH, are not subject to embargo.
Applicable Embargo Dates can be found in [Genomics Platform Metadata](https://platform.stjude.cloud/api/v1/manifest.tsv){target="_blank"} in the `SJ_Embargo_Date` column.

### Unrestricted Data

Certain data within the Genomics Platform is unrestricted. Unrestricted data is not subject to DAC-reviewed approval before a user can obtain it.
The unrestricted dataset on St. Jude Cloud currently includes:

- Feature count files
- [COMET](https://comet.stjude.org/) iDAT files

Steps to access unrestricted data can be found [here](http://docs.stjude.cloud/genomics-platform/getting-started/making-a-data-request#unrestricted-data).

---

## List of DAUs
Expand Down Expand Up @@ -158,7 +169,7 @@ The following data set(s) are included within SJLIFE:

## List of Data Sets

We currently have 21 [Data Sets](#data-set) listed below.
We currently have 22 [Data Sets](#data-set) listed below.
Additional information can also be seen including which [Data Access Units (DAU)](#data-access-unit-dau) the Data Set belongs to, tissue type, sequencing type, number of samples, additional links, and a brief description.

| Data Set | DAU(s) | Tissue Type | Sequencing | Samples |
Expand All @@ -167,6 +178,7 @@ Additional information can also be seen including which [Data Access Units (DAU)
| [CCSS](#childhood-cancer-survivor-study) | CCSS | Germline Only | WGS | 2,912 |
| [CICERO Benchmark](#cicero-benchmark) | PCGP, Clinical Genomics | Paired Tumor-Normal | RNA-Seq | 124 |
| [Clinical Pilot](#clinical-pilot) | PCGP, Clinical Genomics | Paired Tumor-Normal | WGS, WES, RNA-Seq | 155 |
| [COMET](#comet) | Unrestricted | iDAT file | — | 4269 |
| [CReATe](#clinical-research-in-als-and-related-disorders-for-therapeutic-development-consortium) | CReATe | PBMC Germline DNA | WGS | 705 |
| [CSTN](#childhood-solid-tumor-network) | PCGP, Clinical Genomics | Paired Tumor-Normal | WGS, WES, RNA-Seq | 143 |
| [G4K](#genome-4-kids) | PCGP, Clinical Genomics | Paired Tumor-Normal | WGS, WES, RNA-Seq | 565 |
Expand All @@ -183,7 +195,7 @@ Additional information can also be seen including which [Data Access Units (DAU)
| [RTCG](#real-time-clinical-genomics) | PCGP, Clinical Genomics | Paired Tumor-Normal | WGS, WES, RNA-Seq | 7,767 |
| [SGP](#sickle-cell-genome-project) | SGP | Germline Only | WGS | 807 |
| [SJLIFE](#st-jude-life) | SJLIFE | Germline Only | WGS, WES | 4,838 |
| [SJLIFE_ClonalHematopoiesis](#st-jude-life-clonal-hematopoiesis) | SJLIFE | — | Single Cell-WGS, Targeted | 3,192 |
| [SJLIFE_ClonalHematopoiesis](#st-jude-life-clonal-hematopoiesis) | PCGP | — | Single Cell-WGS, Targeted | 3,192 |
| [tMN](#pediatric-therapy-related-myeloid-neoplasms-tmn) | PCGP | Paired Tumor-Normal | WGS, WES, RNA-Seq | 206 |

### Atypical Teratoid / Rhabdoid Tumor-derived Tumoroid Models
Expand Down Expand Up @@ -254,6 +266,14 @@ In addition to patients enrolled in the PGB1 Cohort (primary participants), the
This dataset includes WGS data from N=705 in PGB1, including N=472 ALS/ALS-FTD, N=20 PMA, N=47 PLS, N=162 HSP, and N=4 with other related disorders.
The findings of the project were published in [Translational Neurodegeneration](https://translationalneurodegeneration.biomedcentral.com/articles/10.1186/s40035-025-00516-2).

### COMET

**DAU**: - | **Tissue Type**: - | **Assay Type**: Illumina Infinium 850K array | **Samples**: 4,629| **[Additional Information About COMET](https://www.stjude.org/research/departments/computational-biology/comet.html)**

The solid tumor COmprehensive METhylation (COMET) database is a searchable repository of pediatric solid tumor DNA methylation and copy number variant (CNV) profiles, generated using the Illumina Infinium 850K array, paired with matched whole slide histology images (WSI).
It is the largest and most comprehensive extracranial pediatric solid tumor epigenetic reference dataset in the world, offering DNA methylation profiles across 20 different types of pediatric solid tumors along with a comparative collection of patient-derived orthotopic xenografts, cell lines, adult sarcomas, and normal tissues.
See [Unrestricted Data](#unrestricted-data) for more details on requesting access to this data set.

### DMG-H3K27a Clonal Evolution

**DAU**: PCGP | **Tissue Type**: — | **Sequencing Type**: WGS, WES | **Samples**: 70
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Expand Up @@ -13,6 +13,7 @@ St. Jude Cloud hosts both raw genomic data files and processed results files:
| Somatic VCF | Curated list of somatic variants produced by the St. Jude somatic variant analysis pipeline. | [Click here](#somatic-vcf-files) |
| CNV | List of somatic copy number alterations produced by St. Jude CONSERTING pipeline. | [Click here](#cnv-files) |
| Feature Counts | Curated list of read counts mapped to each gene produced by [HTSeq](https://htseq.readthedocs.io/en/master/) | [Click here](#feature-counts-files) |
| iDAT | Raw, paired intensity files output by an Illumina microarray scanner for a single sample — one per fluorescence channel — before normalization or genotype/methylation calling. | [Click here](#idat-files) |

### BAM files

Expand Down Expand Up @@ -195,6 +196,11 @@ The files are tab-delimited text and contain the feature key and read count for
[rnaseq-rfc]: https://stjudecloud.github.io/rfcs/0001-rnaseq-workflow-v2.0.0.html#specification
[gencode]: https://www.gencodegenes.org/human/release_31.html

### iDAT files

These are the raw, paired intensity files output by an Illumina microarray for a single sample.
Each sample includes two IDAT files — one per fluorescence channel (Green and Red) containing the raw, unprocessed probe intensity signal from the array before any normalization or genotype/methylation calling.

## Sequencing Information

### Whole Genome and Whole Exome
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Expand Up @@ -98,6 +98,16 @@ Data Facets represent a distinct type of post-processed genomic data for collect
</div>
</div>

<div class="flex flex-row">
<div class="pr-8 pt-0 flex-none">
<a href="/pecan/data-facets/epigenetics"><img src="/img/pecan/overview/getting-started/histology.svg" alt="Epigenetics" ></a>
</div>
<div>
<h5 class="font-bold"><a href="/pecan/data-facets/epigenetics" class="text-blue-primary">Epigenetics</a></h5>
<p style="margin-top: 0;">Methylation landscape of over 4,400 pediatric cancer samples in PeCan.</p>
</div>
</div>

## Tools

<div class="flex flex-row">
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87 changes: 87 additions & 0 deletions content/4.pecan/2.data-facets/5.epigenetics.md
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---
title: Epigenetics
---

![Epigenetics](/img/pecan/overview/getting-started/histology.svg)
Explore the methylation landscape of over 4,400 pediatric cancer samples in PeCan.

## Overview

The Epigenetics facet lets you explore methylation data across 4,400+ pediatric cancer samples.
Navigate the data using a UMAP plot with gene- or probe-level overlays of β-values, or view it collectively in a data table.

## UMAP Overlay Features

On page load, each sample on the UMAP is colored by its cancer subtype.
When you select a gene or probe to overlay, the sample color changes to a gradient representative of the β-value for the sample.
β-value is the range in which the target is methylated, with 0 being fully unmethylated and 1 being fully methylated; values can range from 0 to 1.
You can overlay either the mean or median β-value; mean is selected by default (see β-value Toggle below).

### Gene Overlay

Select one or more genes to overlay their associated methylation on the UMAP.
The overlay shows the mean β-value across all probes mapped to the selected gene by default.
You can toggle to the median β-value or switch between selected genes to compare.
To narrow results, apply filters to display only probes in the promoter region, specifically TSS1500 and/or TSS200.

### Probe Overlay

Select one or more probe IDs to overlay their methylation values on the UMAP.
The overlay shows the mean β-value for the selected probe.
The probe overlay is only available for CpG probes that start with `cg`.

### Overlay Considerations

The UMAP and its overlays are drawn from the same underlying dataset, but different filters are applied depending on the view.
Understanding these filtering rules helps you interpret what you see.

### Probe Filtering by Analysis Level

| Level | Low Quality Filter | Common SNP Probes | Cross Reactive Probes | Sex Chromosome Probes |
|---------------------|--------------------|-------------------|-----------------------|-----------------------|
| UMAP | Yes | Yes | No | Yes |
| Gene level overlay | Yes | Yes | No | No |
| Probe level overlay | Yes | No | No | No |

### Filter Descriptions

- **Low Quality Filter:** Removes probes that fail quality control thresholds.
- **Common SNP Probes:** Excludes probes located at common single nucleotide polymorphisms to reduce genotype-driven variation.
- **Cross Reactive Probes:** Excludes probes known to hybridize to multiple genomic locations.
Currently not applied at any level.
Please refer to the following lists of cross-reactive probes:
- Pidsley Cross-Reactive Probes
- McCartney Supplement Probes
- **Sex Chromosome Probes:** Excludes probes on the X and Y chromosomes.
Applied only at the UMAP level to prevent sex-driven clustering.

## Data Table Features

Select the Data tab to view a table of samples with corresponding metadata.
Columns include Sample ID, Diagnosis Subtype Code, and Diagnosis Subtype Name.
β-value columns are sortable, allowing you to rank samples by methylation level for a given gene or probe.

## How to Narrow and Refine the Data

- **Filters:** Filter samples by Sample ID(s), Subtype Root, Subtype, Subtype Biomarkers, Patient Phenotype (sex, age at diagnosis, race, ethnicity), or Sample Preparation parameters.
- **Lasso and Pan/Zoom:** Use the Lasso tool to select a region of samples on the UMAP, or Pan/Zoom to focus on a specific area.
- **β-value Toggle:** In the UMAP tab header, toggle between mean and median β-values for the gene overlay.
Mean is selected by default.
- **Hover and Drawer:**
- **Sample Hover:** Hover over or click a sample on the UMAP to view its metadata (diagnosis, demographics, etc.).
- **Gene Overlay Hover:** Hover over the selected gene to view probe-level data for that gene.

## Menu Options (⋯)

Access additional features from the three-dot menu in the header:

- Show or hide diagnosis category labels on the UMAP
- Copy the URL for the current UMAP view
- Copy Sample IDs for the current view
- Copy data as TSV
- Export the current UMAP as SVG

## UMAP Generation

Methylation β-values were generated using the Infinium MethylationEPIC BeadChip v1.0 array and normalized with subset-quantile within-array normalization (SWAN) to correct for probe-type bias between Type I and Type II probes. After normalization, the standard deviation of β-values was calculated per probe, and the 10,000 probes with the highest standard deviation were kept for UMAP generation.
Probes associated with SNPs at CpG sites, cross-reactive probes, and probes on sex chromosomes were excluded.
87 changes: 87 additions & 0 deletions deployment/preview/pr184/app.yaml
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apiVersion: helm.toolkit.fluxcd.io/v2
kind: HelmRelease
metadata:
name: docs
namespace: docs-pr184
spec:
interval: 30m
chart:
spec:
chart: generic
version: 1.1.x
sourceRef:
kind: HelmRepository
name: stjudecloud
namespace: flux-system
interval: 1h
values:
nameOverride: docs
extraDeploy:
- |
apiVersion: v1
kind: Service
metadata:
name: {{ template "common.names.fullname" . }}-oauth-bridge
labels: {{- include "common.labels.standard" . | nindent 4 }}
{{- if .Values.commonLabels }}
{{- include "common.tplvalues.render" ( dict "value" .Values.commonLabels "context" $ ) | nindent 4 }}
{{- end }}
{{- if .Values.commonAnnotations }}
annotations: {{- include "common.tplvalues.render" ( dict "value" .Values.commonAnnotations "context" $ ) | nindent 4 }}
{{- end }}
spec:
type: ExternalName
externalName: oauth2-proxy.oauth2-proxy
- |
---
apiVersion: networking.k8s.io/v1
kind: Ingress
metadata:
name: {{ .Release.Name }}-oauth
spec:
ingressClassName: nginx
rules:
- host: {{ .Values.ingress.hostname }}
http:
paths:
- backend:
service:
name: {{ template "common.names.fullname" . }}-oauth-bridge
port:
number: 80
path: /oauth2
pathType: ImplementationSpecific
tls:
- hosts:
- {{ .Values.ingress.hostname }}
secretName: {{ .Values.ingress.hostname }}-tls
image:
repository: stjudecloud/docs
tag: pr184-318878b-406 # {"$imagepolicy": "flux-system:docs-pr184:tag"}
podAnnotations:
linkerd.io/inject: enabled
config.linkerd.io/proxy-cpu-request: 20m
containerPorts:
http: 3000
service:
ports:
- name: http
protocol: TCP
port: 3000
targetPort: http
ingress:
enabled: true
hostname: docs-pr184.staging.stjude.cloud
path: /
annotations:
cert-manager.io/cluster-issuer: letsencrypt-prod
linkerd.io/inject: ingress
nginx.ingress.kubernetes.io/auth-signin: https://$host/oauth2/start?rd=$escaped_request_uri
nginx.ingress.kubernetes.io/auth-url: https://$host/oauth2/auth
nginx.ingress.kubernetes.io/service-upstream: "true"
nginx.ingress.kubernetes.io/enable-modsecurity: "true"
nginx.ingress.kubernetes.io/enable-owasp-core-rules: "true"
tls:
enabled: true
datadog:
enabled: false