A Generalized Model to Describe Sequence Feature Annotation
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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

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