Models

23 Models visible to you, out of a total of 24

Core Ontology of Phenotypes. Contribute to Onto-Med/COP development by creating an account on GitHub.

Creators: Christoph Beger, Alexandr Uciteli, Heinrich Herre

Contributor: Christoph Beger

Depending on the calculated mutation probability genetic counsellors can decide whether patients should undergo further analysis of microsatellite instability and immunohistochemistry. The model is recommended for patients with an age at colorectal cancer diagnosis of 55 or younger.

"MMRpredict" is a risk prediction model for patients with colorectal cancer (Barnetson et al. 2006). It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (overall probability)
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Creators: Silke Zachariae, Christoph Engel

Contributor: Silke Zachariae

Preprocessing Illumina HT12v4 gene expression data including quality filtering, data transformation and normalisation and batch-effect removal as well as visualisation

Creators: Christoph Beger, Holger Kirsten

Contributor: Christoph Beger

The PREMM1,2,6 has been developed as a pretest to decide whether patients suspected of having Lynch syndrome should be tested for germline mismatch repair gene mutations.
"PREMM1,2,6" is a logistic regression model. It calculates the risk of having a mutation in the mismatch repair genes MLH1, MSH2 and MSH6 (for single genes and overall) based on the personal and familial cancer history of the proband (colorectal, endometrial, and other Lynch syndrome related cancers).

Creators: Christoph Engel, Silke Zachariae, Kastrinos et al.

Contributor: Silke Zachariae

Motivation:
The "Manchester Scoring System" can be used to assist clinicians and genetic counselors in the clinical management of families suspected of having hereditary breast and ovarian cancer and to decide whether genetic testing should be performed.

Description:
The "Manchester Scoring System" is an empirical mutation risk prediction model. In its current form, a risk score for the identification of a pathogenic BRCA1/2 mutation is being calculated based on the number of breast and ovarian
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Creators: Silke Zachariae, Christoph Engel, Evans, D.G. et al. (2009)

Contributor: Silke Zachariae

The GC-HBOC BC Risk Explorer (GC-HBOC BC-RE) predicts the breast cancer risk for BRCA1/2 carriers and high-risk non-carriers at risk for first breast cancer (cohort 1), and BRCA1/2 carriers and high-risk non-carriers who were previously diagnosed with unilateral breast cancer, and are at risk for contralateral breast cancer (cohort 2). GC-HBOC BC-RE is based on data from female BRCA1/2 carriers and non-carriers with a family history of breast and ovarian cancer, who participated in the intensified
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Creators: Silke Zachariae, Christoph Engel

Contributor: Silke Zachariae

Motivation:
The eClaus model can be used to calculate mutation risks for BRCA1/2 as well as life-time risks for breast cancer in women from families with multiple and/or early onset cases of breast and ovarian cancer. The model can be used to assist genetic counselors in clinical decision making regarding genetic testing, intensified surveillance, and prophylatic surgery.

Description:
The Claus model is a genetic breast cancer risk calculation model assuming a single rare, highly penetrant gene.
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Creators: Silke Zachariae, Christoph Engel, Claus, E.B. et al. (1991 and 1994)

Contributor: Silke Zachariae

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