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.

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

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