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zdVbC`o0HQ+^JmNpky{WRP$R!!d*`E%iWf~DKhjuhcTjHqH;;eUrrq9Nsg#p1`0nSn zbjjzU>s=XAA}ZXSF70t#`TAOv-rV$cS>00iUzL5Exb*Ce-m+t=Q+O}2%IG~Run?Un z4ji^*JgB!>C64pMo1*L>on5onP0r)}yt+MX&YQmvd6=1Q9%T5s4tRXJ_UU)~Q|C8b zzaDhw4sel;?9n6VQYK~A7^j?jd=y!@LoqcdL`G=Aw^jQLKA5-tQ_NKN z`sm;OWxdeL)FW-Df%nP16FR&&XQJ1Wsz=*37Vvn>Gyf>|`7rat*7@yUcKh?pkh}6? zL!{d@H*pr5I*-`d5{9Q9v#Z-?+k5};f6&W+x28`FaL4bP&*^*+pZYFyB!YP zPk)|j{PuuxyTt*~s}~()+Pmxce{dhab#&R)hiza+=eCD zxU3gHiXR#-x}EX(&@Y2ay6b=gHwu^kGi-kN+a_EoSYvMT?X4-FIcp!J7wXRW94jiq zIB^v)@mx1us~&NsB-T3M>Xx>NTVDTO?eS#Zi4zM`3{D)_k~)QRTS9G`2QvVL9OE? literal 0 HcmV?d00001 From 31bac09b76ad6b3c893a1de179bc539ab8d2e02e Mon Sep 17 00:00:00 2001 From: "Ana T." <110167680+AnaT-DCO@users.noreply.github.com> Date: Mon, 11 Nov 2024 17:10:07 +0100 Subject: [PATCH 2/6] Create Pedigree.md New section for menu, Help and Pedigree --- docs/Pedigree.md | 32 ++++++++++++++++++++++++++++++++ 1 file changed, 32 insertions(+) create mode 100644 docs/Pedigree.md diff --git a/docs/Pedigree.md b/docs/Pedigree.md new file mode 100644 index 000000000..08df4aaf7 --- /dev/null +++ b/docs/Pedigree.md @@ -0,0 +1,32 @@ +# Overview of the JSON schema *pedigree.json* + +The JSON schema for the pedigree data (*pedigree.json*) defines how members of a pedigree (family tree) are represented. It includes several key components: +1. **"id"**: A unique identifier for the **pedigree**, which is distinct from a family ID. This is because one individual can be involved in multiple pedigrees related to different diseases. +
+Example schema +
+ +*Example: in case a proband (Proband 1) is affected by two diseases segregating in the family, they can be found in two pedigrees related to these different diseases (pedigree drawn here from the Proband 1 perspective showing all family members).* + +2. **"members"**: An array of individuals involved in the pedigree, either with a full family structure (if attached to the proband) or with two members (if the perspective is from a parent or relative). Each member object includes: + - **"affected"**: Whether the individual is affected by the disease. + - **"memberId"**: The unique identifier of the individual. + - **"role"**: A role object identifying the relationship of the individual (e.g., proband, biological mother, biological father). + +3. **"disease"**: A reference to the disease(s) affecting the individual in the pedigree. This links to another file, `disease.json`, which contains more details about the disease data. + +4. **"numSubjects"**: The total number of individuals in the pedigree. This simplifies queries by providing the total count, helping to avoid reconstructing the family tree repeatedly. + +# Asymmetry in "members": +- If the schema is defined from the **proband's perspective**, all members (proband, parents, etc.) are included. +- If defined from **another individual's perspective** (e.g., the mother), only two entries are included: the individual and the proband. +This structure helps with flexibility in representing different family views and cases where an individual may appear in multiple pedigrees. + +# FAQs and considerations: +**1. Is it necessary to include one pedigree for each disease an individual has?** + +**Answer**: No, it is not necessary to create a new pedigree for every disease an individual has. Doing so can overburden the system with redundant information, resulting in many pedigrees that may be of little to no interest. Instead, you should focus on the most relevant or impactful diseases for the family and research context. + +**2. Can pedigrees be added on demand?** + +**Answer**: Yes, pedigrees can be added dynamically as the individual’s data in Beacon is not static. This allows flexibility to update an individual’s genetic or family data as more information is discovered, or when a particular disease becomes the focus of research or clinical interest. From 6c48516481060b4988179838317bc029140d9646 Mon Sep 17 00:00:00 2001 From: "Ana T." <110167680+AnaT-DCO@users.noreply.github.com> Date: Mon, 11 Nov 2024 17:12:17 +0100 Subject: [PATCH 3/6] Rename Pedigree.md to pedigree.md Rename pedigree --- docs/{Pedigree.md => pedigree.md} | 0 1 file changed, 0 insertions(+), 0 deletions(-) rename docs/{Pedigree.md => pedigree.md} (100%) diff --git a/docs/Pedigree.md b/docs/pedigree.md similarity index 100% rename from docs/Pedigree.md rename to docs/pedigree.md From 87c7a35af97f5689fff32d4d6aa6d83e3df06b40 Mon Sep 17 00:00:00 2001 From: "Ana T." <110167680+AnaT-DCO@users.noreply.github.com> Date: Mon, 11 Nov 2024 17:13:50 +0100 Subject: [PATCH 4/6] Update mkdocs.yaml Update menu, Help added --- mkdocs.yaml | 2 ++ 1 file changed, 2 insertions(+) diff --git a/mkdocs.yaml b/mkdocs.yaml index 2c21e333a..2b3b2b605 100644 --- a/mkdocs.yaml +++ b/mkdocs.yaml @@ -21,6 +21,8 @@ nav: - Changes: changes-todo - FAQ ↗: https://genomebeacons.org/FAQ/ - Beacon News ↗: https://genomebeacons.org/news/ + - Help: + - How to describe a pedigree: pedigree - Using Beacons: - Genomic Queries: variant-queries - Phenotypes and More...: /filters/#using-filters-in-queries From 85b99bc2f1027dd197802bfaf1a35d199b2e7d31 Mon Sep 17 00:00:00 2001 From: "Ana T." <110167680+AnaT-DCO@users.noreply.github.com> Date: Mon, 11 Nov 2024 17:18:46 +0100 Subject: [PATCH 5/6] Update pedigree.md image updated for pedigree --- docs/pedigree.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/docs/pedigree.md b/docs/pedigree.md index 08df4aaf7..2728b044b 100644 --- a/docs/pedigree.md +++ b/docs/pedigree.md @@ -3,7 +3,7 @@ The JSON schema for the pedigree data (*pedigree.json*) defines how members of a pedigree (family tree) are represented. It includes several key components: 1. **"id"**: A unique identifier for the **pedigree**, which is distinct from a family ID. This is because one individual can be involved in multiple pedigrees related to different diseases.
-Example schema +Example schema
*Example: in case a proband (Proband 1) is affected by two diseases segregating in the family, they can be found in two pedigrees related to these different diseases (pedigree drawn here from the Proband 1 perspective showing all family members).* From 9343b00fbbc682dc1664f10cf99c74aa07d43c62 Mon Sep 17 00:00:00 2001 From: Michael Baudis Date: Fri, 15 Nov 2024 11:12:12 +0900 Subject: [PATCH 6/6] reorganization * fixed image link * added link to default schema for Pedigree * changed navigation assignment; we should not add a "help" section w/o real need (the whole site is "help") We will have to reconsider the overall layout of the content navigation at some point ... --- docs/pedigree.md | 10 ++++++---- mkdocs.yaml | 3 +-- 2 files changed, 7 insertions(+), 6 deletions(-) diff --git a/docs/pedigree.md b/docs/pedigree.md index 2728b044b..0219830ea 100644 --- a/docs/pedigree.md +++ b/docs/pedigree.md @@ -1,10 +1,10 @@ # Overview of the JSON schema *pedigree.json* -The JSON schema for the pedigree data (*pedigree.json*) defines how members of a pedigree (family tree) are represented. It includes several key components: +The [JSON schema for the pedigree data](https://github.com/ga4gh-beacon/beacon-v2/blob/main/models/src/beacon-v2-default-model/common/pedigree.yaml) defines how members of a pedigree (family tree) are represented. It includes several key components: + 1. **"id"**: A unique identifier for the **pedigree**, which is distinct from a family ID. This is because one individual can be involved in multiple pedigrees related to different diseases. -
-Example schema -
+ +![Example pedigree schema](/img/Pedigree-image1.jpg) *Example: in case a proband (Proband 1) is affected by two diseases segregating in the family, they can be found in two pedigrees related to these different diseases (pedigree drawn here from the Proband 1 perspective showing all family members).* @@ -18,11 +18,13 @@ The JSON schema for the pedigree data (*pedigree.json*) defines how members of a 4. **"numSubjects"**: The total number of individuals in the pedigree. This simplifies queries by providing the total count, helping to avoid reconstructing the family tree repeatedly. # Asymmetry in "members": + - If the schema is defined from the **proband's perspective**, all members (proband, parents, etc.) are included. - If defined from **another individual's perspective** (e.g., the mother), only two entries are included: the individual and the proband. This structure helps with flexibility in representing different family views and cases where an individual may appear in multiple pedigrees. # FAQs and considerations: + **1. Is it necessary to include one pedigree for each disease an individual has?** **Answer**: No, it is not necessary to create a new pedigree for every disease an individual has. Doing so can overburden the system with redundant information, resulting in many pedigrees that may be of little to no interest. Instead, you should focus on the most relevant or impactful diseases for the family and research context. diff --git a/mkdocs.yaml b/mkdocs.yaml index 2b3b2b605..aa8f419d2 100644 --- a/mkdocs.yaml +++ b/mkdocs.yaml @@ -21,11 +21,10 @@ nav: - Changes: changes-todo - FAQ ↗: https://genomebeacons.org/FAQ/ - Beacon News ↗: https://genomebeacons.org/news/ - - Help: - - How to describe a pedigree: pedigree - Using Beacons: - Genomic Queries: variant-queries - Phenotypes and More...: /filters/#using-filters-in-queries + - Pedigrees: pedigree - Data Delivery: - Biosamples, Variants...: records - Data Handovers: handovers