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.

  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
  38. Comparative mapping
  39. Complex traits
  40. Computational tools
  41. Consanguinity
  42. Copy number/structural variation
  43. COVID-19
  44. Databases
  45. Delineation of diseases
  46. Depression
  47. Development
  48. Diabetes
  49. Diagnostics
  50. Differentiation
  51. Digital gene expression
  52. Dysmorphology
  53. Education
  54. Electronic health records (EHRs)
  55. Embryonic stem cells
  56. Endocrine system
  57. Enzyme replacement therapy
  58. Epidemiology
  59. Epigenetics
  60. Epigenome-wide association
  61. Epilepsy
  62. Ethical, legal and social issues
  63. Etiology
  64. Evolution
  65. Evolutionary genetics
  66. Exome sequencing
  67. Expression quantitative trait loci (eQTL)
  1. Family history
  2. Family linkage analysis
  3. Fetal pathology
  4. Fetal therapy
  5. FISH
  6. Fragile X syndrome and FXTAS
  7. Functional motifs
  8. Gastrointestinal system
  9. Gene environment interaction
  10. Gene families
  11. Gene localization
  12. Gene regulation
  13. Gene therapy
  14. Gene transfer
  15. Genetic counseling
  16. Genetic diversity
  17. Genetic epidemiology
  18. Genetic instability
  19. Genetic mapping
  20. Genetic testing
  21. Genitourinary system
  22. Genome editing/CRISPR
  23. Genome sequencing
  24. Genome-wide association
  25. Genomic structure
  26. Genomics
  27. Genotype-phenotype correlations
  28. Haplotype
  29. Hematopoietic system
  30. Heritability
  31. Identification of disease genes
  32. Immune system
  33. Imprinting
  34. Infectious disease
  35. Infertility
  36. Inheritance modeling
  37. Inheritance patterns
  38. Intellectual and developmental disability
  39. Limb
  40. Linkage disequilibrium
  41. Linkage mapping
  42. Linkage methods
  43. Lymphatic system
  44. Lysosomal diseases
  45. Malformation
  46. Massively parallel sequencing
  47. Maternal serum screening
  48. Mathematical modeling
  49. Meiosis
  50. Mendelian disorder
  51. Mendelian randomization
  52. Metabolic disorder
  53. Metabolomics
  54. Methodology
  55. Methylation
  56. Microarrays
  57. Microbiome
  58. MicroRNA
  59. Mitochondria
  60. Model organisms
  61. Molecular cytogenetics
  62. Molecular pathophysiology
  63. Morphogenesis
  64. Mosaicism
  65. Muscular abnormalities
  66. Mutation detection
  67. Myotonic dystrophies
  68. Natural history
  69. Natural selection
  70. Nervous system
  1. Neurodegeneration
  2. Neurogenetics
  3. Newborn screening
  4. NIPT
  5. Noncoding RNA
  6. Obesity
  7. Oncogenesis
  8. Organic acidurias
  9. Pathogenesis
  10. Peroxisomal diseases
  11. Pharmacodynamics
  12. Pharmacogenomics
  13. Pharmacokinetics
  14. Pharmacologic therapy
  15. Phenome-wide association
  16. Phenotype
  17. Policy issues
  18. Polyalanine disorders
  19. Polyglutamine diseases
  20. Polymorphism
  21. Population genetics
  22. Population structure
  23. Precision medicine
  24. Preclinical trial
  25. Preimplantation diagnosis
  26. Prenatal diagnosis
  27. Protein structure
  28. Proteomics
  29. Psychiatric genetics
  30. Psychosocial issues
  31. Public health
  32. Quantitative trait
  33. Rare variants
  34. Regulation of transcription
  35. Reproductive genetics
  36. Respiratory system
  37. Risk assessment
  38. RNA
  39. RNA pathology
  40. RNA-seq
  41. RNAi
  42. Single-cell
  43. Skeletal system
  44. SNP analysis/discovery
  45. Somatic Variants
  46. Splicing mechanisms
  47. Statistical genetics
  48. Stem cell(s)
  49. Susceptibility locus
  50. Systems biology
  51. Tandem mass spectroscopy
  52. Targeted sequencing
  53. Telomere structure/function
  54. Teratogens
  55. Transcription
  56. Transcription factor
  57. Transcriptome
  58. Transgenic model
  59. Translational studies and preclinical trials
  60. Transplantation
  61. Transposable elements
  62. Triplet and other repeats
  63. Ultrasound diagnosis
  64. Uniparental disomy
  65. Variant calling
  66. Viral vectors
  67. Visual systems
  68. X-inactivation
  69. X-linked disease

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