Keywords

You will be asked to select up to five (5) keywords in order of importance that are broad and inclusive. Keywords aid in the review process, help tag presentations, and if applicable, determine placement of the abstract in a session. Keywords also help identify the themes of your abstract.

Group 1: A-F
  1. Alternative splicing
  2. Alzheimer’s disease
  3. Amino acidemias
  4. Ancient DNA
  5. Aneuploidy
  6. Anxiety
  7. Assisted reproduction
  8. Asthma
  9. Ataxia
  10. Auditory system
  11. Autism
  12. Autoimmune disorder
  13. Behavior
  14. Biochemical pathology
  15. Bioinformatics
  16. Bone marrow transplantation
  17. Bone/joint abnormalities
  18. Brain/nervous system
  19. Cancer
  20. Cancer cytogenetics
  21. Cancer syndromes
  22. Candidate gene
  23. Cardiovascular system
  24. Cell-free DNA
  25. Cellular metabolism
  26. Centromere structure/function
  27. Channelopathies
  28. Characterization of disorders
  29. Characterization of syndromes
  30. Chromatin
  31. Chromosomal abnormalities
  32. Chromosomal deletions
  33. Chromosomal structure/function
  34. Ciliopathies
  35. Clinical cytogenetics
  36. Clinical history
  37. Clinical testing
  1. Comparative mapping
  2. Complex traits
  3. Computational tools
  4. Consanguinity
  5. Copy number/structural variation
  6. COVID-19
  7. Databases
  8. Delineation of diseases
  9. Depression
  10. Development
  11. Diabetes
  12. Diagnostics
  13. Differentiation
  14. Digital gene expression
  15. Dysmorphology
  16. Education
  17. Electronic health records (EHRs)
  18. Embryonic stem cells
  19. Endocrine system
  20. Enzyme replacement therapy
  21. Epidemiology
  22. Epigenetics
  23. Epigenome-wide association
  24. Epilepsy
  25. Ethical, legal and social implications
  26. Etiology
  27. Evolution
  28. Evolutionary genetics
  29. Exome sequencing
  30. Expression quantitative trait loci (eQTL)
  31. Family history
  32. Family linkage analysis
  33. Fetal pathology
  34. Fetal therapy
  35. FISH
  36. Fragile X syndrome and FXTAS
  37. Functional motifs
Group 2: G-N
  1. Gastrointestinal system
  2. Gene environment interaction
  3. Gene families
  4. Gene localization
  5. Gene regulation
  6. Gene therapy
  7. Gene transfer
  8. Genetic counseling
  9. Genetic diversity
  10. Genetic epidemiology
  11. Genetic instability
  12. Genetic mapping
  13. Genetic testing
  14. Genitourinary system
  15. Genome editing/ CRISPR
  16. Genome sequencing
  17. Genome-wide association
  18. Genomic structure
  19. Genomics
  20. Genotype-phenotype correlations
  21. Haplotype
  22. Hematopoietic system
  23. Heritability
  24. Identification of disease genes
  25. Immune system
  26. Imprinting
  27. Infectious disease
  28. Infertility
  29. Inheritance modeling
  30. Inheritance patterns
  31. Intellectual and developmental disability
  32. Limb
  33. Linkage disequilibrium
  34. Linkage mapping
  1. Linkage methods
  2. Lymphatic system
  3. Lysosomal diseases
  4. Malformation
  5. Massively parallel sequencing
  6. Maternal serum screening
  7. Mathematical modeling
  8. Meiosis
  9. Mendelian disorder
  10. Mendelian randomization
  11. Metabolic disorder
  12. Metabolomics
  13. Methodology
  14. Methylation
  15. Microarrays
  16. Microbiome
  17. MicroRNA
  18. Mitochondria
  19. Model organisms
  20. Molecular cytogenetics
  21. Molecular pathophysiology
  22. Morphogenesis
  23. Mosaicism
  24. Muscular abnormalities
  25. Mutation detection
  26. Myotonic dystrophies
  27. Natural history
  28. Natural selection
  29. Nervous system
  30. Neurodegeneration
  31. Neurogenetics
  32. Newborn screening
  33. NIPT
  34. Noncoding RNA
Group 3: O-X
  1. Obesity
  2. Oncogenesis
  3. Organic acidurias
  4. Pathogenesis
  5. Peroxisomal diseases
  6. Pharmacodynamics
  7. Pharmacogenomics
  8. Pharmacokinetics
  9. Pharmacologic therapy
  10. Phenome-wide association
  11. Phenotype
  12. Policy issues
  13. Polyalanine disorders
  14. Polyglutamine diseases
  15. Polymorphism
  16. Population genetics
  17. Population structure
  18. Precision medicine
  19. Preclinical trial
  20. Preimplantation diagnosis
  21. Prenatal diagnosis
  22. Protein structure
  23. Proteomics
  24. Psychiatric genetics
  25. Psychosocial issues
  26. Public health
  27. Quantitative trait
  28. Rare variants
  29. Regulation of transcription
  30. Reproductive genetics
  31. Respiratory system
  32. Risk assessment
  1. RNA
  2. RNA pathology
  3. RNA-seq
  4. RNAi
  5. Single-cell
  6. Skeletal system
  7. SNP analysis/discovery
  8. Somatic Variants
  9. Splicing mechanisms
  10. Statistical genetics
  11. Stem cell(s)
  12. Susceptibility locus
  13. Systems biology
  14. Tandem mass spectroscopy
  15. Targeted sequencing
  16. Telomere structure/function
  17. Teratogens
  18. Transcription
  19. Transcription factor
  20. Transcriptome
  21. Transgenic model
  22. Translational studies and preclinical trials
  23. Transplantation
  24. Transposable elements
  25. Triplet and other repeats
  26. Ultrasound diagnosis
  27. Uniparental disomy
  28. Variant calling
  29. Viral vectors
  30. Visual systems
  31. X-inactivation
  32. X-linked disease

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