Publications by authors named "Sean DeLong"
Article Synopsis
- Von Hippel-Lindau (VHL) disease is a genetic disorder leading to tumor development in various organs, complicated by significant variability and challenges in patient care due to limited data sharing.
- The ClinGen VHL Variant Curation Expert Panel is addressing the lack of information on genetic variants' significance by crowdsourcing variant annotations using an open-access web tool called Hypothes.is.
- A biocuration training protocol was created, allowing undergrad and high school students to participate in VHL variant annotation, promoting engagement in clinical genetics and improving knowledge in hereditary cancer research.
Article Synopsis
- - CIViC is a public, crowd-sourced database that compiles peer-reviewed research on the clinical significance of cancer variants to aid in cancer management.
- - It offers structured data in real-time to facilitate global access and is designed to keep up with evolving variant interpretation guidelines and enhance collaboration with other resources.
- - The platform has successfully expanded to include new Evidence Types related to cancer variants and now features contributions from over 300 experts, covering more than 3200 variants across 470 genes from over 3100 published studies.
As guidelines, therapies, and literature on cancer variants expand, the lack of consensus variant interpretations impedes clinical applications. CIViC is a public domain, crowd-sourced, and adaptable knowledgebase of evidence for the Clinical Interpretation of Variants in Cancer, designed to reduce barriers to knowledge sharing and alleviate the variant interpretation bottleneck.
View Article and Find Full Text PDFVon Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor suppressor gene. Standardized disease information has been difficult to collect due to the rarity and diversity of VHL patients.
View Article and Find Full Text PDFBackground: Variant interpretation is the main bottleneck in medical genomic sequencing efforts. This usually involves genome analysts manually searching through a multitude of independent databases, often with the aid of several, mostly independent, computational tools. To streamline variant interpretation, we developed the GeneTerpret platform which collates data from current interpretation tools and databases, and applies a phenotype-driven query to categorize the variants identified in the genome(s).
View Article and Find Full Text PDF