Keywords
You will be asked to enter up to five (5) keyword codes in order of importance. Keyword codes aid in the review process and placement of the abstract in a session, if applicable. Keywords also help identify the themes of your abstract.
- Alternative splicing
- Alzheimer’s disease
- Amino acidemias
- Ancient DNA
- Aneuploidy
- Assisted reproduction
- Asthma
- Ataxia
- Auditory system
- Autism
- Autoimmune disorder
- Behavior
- Biochemical pathology
- Bioinformatics
- Bone marrow transplantation
- Bone/joint abnormalities
- Brain/nervous system
- Cancer
- Cancer cytogenetics
- Cancer syndromes
- Candidate gene
- Cardiovascular system
- Cell-free DNA
- Cellular metabolism
- Centromere structure/function
- Channelopathies
- Characterization of disorders
- Characterization of syndromes
- Chromatin
- Chromosomal abnormalities
- Chromosomal deletions
- Chromosomal structure/function
- Ciliopathies
- Clinical cytogenetics
- Clinical history
- Clinical testing
- Comparative mapping
- Complex traits
- Computational tools
- Consanguinity
- Copy number/structural variation
- COVID-19
- Databases
- Delineation of diseases
- Development
- Diabetes
- Diagnostics
- Differentiation
- Digital gene expression
- Dysmorphology
- Education
- Electronic health records (EHRs)
- Embryonic stem cells
- Endocrine system
- Enzyme replacement therapy
- Epidemiology
- Epigenetics
- Epigenome-wide association
- Epilepsy
- Ethical, legal and social issues
- Etiology
- Evolution
- Evolutionary genetics
- Exome sequencing
- Expression quantitative trait loci (eQTL)
- Family history
- Family linkage analysis
- Fetal pathology
- Fetal therapy
- FISH
- Fragile X syndrome and FXTAS
- Functional motifs
- Gastrointestinal system
- Gene environment interaction
- Gene families
- Gene localization
- Gene regulation
- Gene therapy
- Gene transfer
- Genetic counseling
- Genetic diversity
- Genetic epidemiology
- Genetic instability
- Genetic mapping
- Genetic testing
- Genitourinary system
- Genome editing/CRISPR
- Genome sequencing
- Genome-wide association
- Genomic structure
- Genomics
- Genotype-phenotype correlations
- Haplotype
- Hematopoietic system
- Heritability
- Identification of disease genes
- Immune system
- Imprinting
- Infectious disease
- Infertility
- Inheritance modeling
- Inheritance patterns
- Intellectual and developmental disability
- Limb
- Linkage disequilibrium
- Linkage mapping
- Linkage methods
- Lymphatic system
- Lysosomal diseases
- Malformation
- Massively parallel sequencing
- Maternal serum screening
- Mathematical modeling
- Meiosis
- Mendelian disorder
- Mendelian randomization
- Metabolic disorder
- Metabolomics
- Methodology
- Methylation
- Microarrays
- Microbiome
- MicroRNA
- Mitochondria
- Model organisms
- Molecular cytogenetics
- Molecular pathophysiology
- Morphogenesis
- Mosaicism
- Muscular abnormalities
- Mutation detection
- Myotonic dystrophies
- Natural history
- Natural selection
- Nervous system
- Neurodegeneration
- Neurogenetics
- Newborn screening
- NIPT
- Noncoding RNA
- Obesity
- Oncogenesis
- Organic acidurias
- Pathogenesis
- Peroxisomal diseases
- Pharmacodynamics
- Pharmacogenomics
- Pharmacokinetics
- Pharmacologic therapy
- Phenome-wide association
- Phenotype
- Policy issues
- Polyalanine disorders
- Polyglutamine diseases
- Polymorphism
- Population genetics
- Population structure
- Precision medicine
- Preclinical trial
- Preimplantation diagnosis
- Prenatal diagnosis
- Protein structure
- Proteomics
- Psychiatric genetics
- Psychosocial issues
- Public health
- Quantitative trait
- Rare variants
- Regulation of transcription
- Reproductive genetics
- Respiratory system
- Risk assessment
- RNA
- RNA pathology
- RNA-seq
- RNAi
- Single-cell
- Skeletal system
- SNP analysis/discovery
- Somatic Variants
- Splicing mechanisms
- Statistical genetics
- Stem cell(s)
- Susceptibility locus
- Systems biology
- Tandem mass spectroscopy
- Targeted sequencing
- Telomere structure/function
- Teratogens
- Transcription
- Transcription factor
- Transcriptome
- Transgenic model
- Translational studies and preclinical trials
- Transplantation
- Transposable elements
- Triplet and other repeats
- Ultrasound diagnosis
- Uniparental disomy
- Variant calling
- Viral vectors
- Visual systems
- X-inactivation
- X-linked disease