Stephan Heijl

Stephan Heijl
Bio-Prodict · Data Science

Bachelor of Science

About

5
Publications
515
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
5
Citations

Publications

Publications (5)
Article
Full-text available
Background Protein truncating variants in ATM , BRCA1 , BRCA2 , CHEK2 , and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consorti...
Article
Full-text available
Heterozygous carriers of germline loss-of-function variants in the tumor suppressor gene checkpoint kinase 2 (CHEK2) are at an increased risk for developing breast and other cancers. While truncating variants in CHEK2 are known to be pathogenic, the interpretation of missense variants of uncertain significance (VUS) is challenging. Consequently, ma...
Preprint
Full-text available
BACKGROUND Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2 and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. METHODS Combining 59,639 breast cancer cases and 53,165 controls, we sampled training (80%) and validation (20%) sets to analyze rare missense varian...
Preprint
Full-text available
In this white paper we introduce Helix, an AI based solution for missense pathogenicity prediction. With recent advances in the sequencing of human genomes, massive amounts of genetic data have become available. This has shifted the burden of labor for genetic diagnostics and research from the gathering of data to its interpretation. Helix presents...
Preprint
Full-text available
Despite advances in the field of missense variant effect prediction, the real clinical utility of current computational approaches remains rather limited. There is a large difference in performance metrics reported by developers and those observed in the real world. Most currently available predictors suffer from one or more types of circularity in...

Network

Cited By

Projects

Project (1)