false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Generalized Model to Describe Sequence Feature A ...
A Generalized Model to Describe Sequence Feature Annotation
Back to course
Pdf Summary
The Global Alliance for Genomics and Health (GA4GH) is working on a model to describe sequence feature annotation for genomic research and human health. The model aims to provide a basis for data formats, APIs, and libraries for processing and sharing genomic data at scale. Annotated sequences contain important markers such as gene models, alternate transcripts, untranslated regions, pseudogenes, regulatory regions, and repeated sequences. This information is crucial for variant annotation and interpretation, transcription analysis, and epigenomics.<br /><br />To develop the sequence feature model, GA4GH conducted use case analysis by gathering user stories from the community. These user stories highlighted the need for more detailed annotation of sequence features, metadata for streamlined data retrieval, consistent representation of errors and imperfections, annotation origin, clinical significance, and an unambiguous transcript identification scheme. The model design involved selecting entities from the Sequence Ontology, evaluating current usage of these entities, and integrating relevant metadata elements from other GA4GH specifications.<br /><br />The model focuses on sequence features and includes basic attributes like genome build, genomic location, and transcript ID. It also explores representations of evidence and provenance. Genes, regulatory regions, and transcripts are considered the main model objects and serve as central reference points for future development.<br /><br />The goal of the sequence feature annotation model is to improve the representation and sharing of biological sequence knowledge. By standardizing metadata elements and providing a comprehensive model, the model aims to enhance the utility of annotation formats in large-scale genomic analysis. However, it is important to note that the contents of the poster summarizing this work have not been reviewed or approved by GA4GH.
Asset Subtitle
Presenting Author - Evan Christensen, BS; Co-Author - Karen Eilbeck, PhD; Co-Author - Sean Upchurch, MS;
Meta Tag
Biochemical genetics
Bioinformatics
Cancer Cytogenetics
Cell free DNA/cfDNA
Chromosomal Abnormalities
Chromosome Structure/Function
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Cytogenetics
Databases
Epigenetics
Exome sequencing
Gene Localization
Gene Mapping
Genetic Diversity
Genetic Testing
Genome sequencing
Genomic Methodologies
Genomic Structure
Genotype-Phenotype Correlations
Identification of Disease Genes
Linkage Analysis
Mapping Complex Traits
Maternal Genetic Disease
Methodology
Methylation
Mitochondria
Model Organisms
Molecular Cytogenetics
NextGen Sequencing
Noninvasive prenatal screening (NIPS)
Phenotype
Polygenic risk scores
Population Genetics
Sequencing
Structure/Function
Transgenic Model
Variant Detection
Co-Author
Karen Eilbeck, PhD
Co-Author
Sean Upchurch, MS
Presenting Author
Evan Christensen, BS
Keywords
Global Alliance for Genomics and Health
sequence feature annotation
genomic research
human health
data formats
APIs
libraries
annotated sequences
variant annotation
transcript identification scheme
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
×