Abstract Topics, Subtopics, and Keywords

Carefully select one Main Topic, one Subtopic, and up to five keywords for your submission. This will allow the Program Committee to accurately assess your submission and program your presentation with related content.

Main Topics

Please select one of the twelve main topics that best represents the content of your submission. If your submission fits multiple categories, please select the one that would be most appropriate for peer review and placement in the meeting program (i.e., the type of content with which you would like the presentation to be grouped).

  1. Mendelian Phenotypes – Abstracts should be submitted to this category if your work focuses on diseases caused by a single locus; however, di-genic and tri-allelic diseases may be included. Submissions to this category should advance our understanding of how mutations in a single gene lead to human disease (e.g., mapping novel loci, defining molecular pathology, identifying phenotypic modifiers) and/or current concepts in treating these diseases (e.g., therapy, pharmacogenetics).
  2. Complex Traits and Polygenic Disorders – Abstracts should be submitted to this category if your work has a primary focus on the genetic basis of complex traits (e.g., cardiovascular, psychiatric, and neurological traits) and/or on treating these diseases (e.g., therapy, pharmacogenetics). Please note that development of statistical or bioinformatic methods to study complex traits and polygenic disorders are likely to be more appropriate for “Bioinformatics and Computational Approaches” or “Statistical Genetics and Genetic Epidemiology”.
  3. Evolution and Population Genetics – Abstracts should be submitted to this category if your work involves empirical and theoretical research on the patterns and determinants of genetic variation within and between populations.
  4. Precision Medicine, Pharmacogenomics, and Genetic Therapies – Abstracts should be submitted to this category if your work focuses on how genomic differences or differences in other molecular phenotypes influence the risk of individuals to develop diseases, e.g., polygenic risk scores; how genomic differences influence the observed variations among individuals in drug response, including both therapeutic and adverse effects; or advances in the treatment of genetic/metabolic disorders in humans or animal models, using gene therapy, gene editing, oligonucleotides, antibodies, small molecules, cell-based therapies, etc.
  5. Prenatal, Perinatal, Reproductive, and Developmental Genetics – Abstracts should be submitted to this category if your work focuses on prenatal diagnosis of genetic disorders; genetic contributions to complications of pregnancy; genetics related to reproductive biology, including infertility; or the genetic basis of embryonic and postnatal development and growth, and/or on the basic biological function of human genes. Content appropriate for this section includes, but is not limited to, the use of molecular, biochemical, cellular, and animal models to study development and gene function.
  6. Molecular Effects of Genetic Variation – Abstracts should be submitted to this category if your work focuses on effects that genetic variants have on cellular or molecular traits. Content appropriate for this section includes eQTL (and other QTL) mapping of regulatory variants, functional characterization of disease-associated variants, prediction of variant effects on molecular traits, and assays for measuring regulatory or other molecular effects of genetic variant.
  7. Epigenetics and Gene Regulation – Abstracts should be submitted to this category if your work focuses on the molecular mechanisms of gene regulation and/or heritable changes in gene expression caused by mechanisms other than changes in DNA sequence. This includes understanding the critical biological mechanisms that alter or influence cell fate decisions. Content appropriate for this topic include, but are not limited to, DNA methylation, chromatin modifications or localization, histone variants, 3D genome and chromatin conformation analysis, imprinting, X-chromosome inactivation, non-coding RNAs and transcription factor binding.
  8. Statistical Genetics and Genetic Epidemiology – Abstracts should be submitted to this category if your work concentrates on statistical methods development and their application to elucidate the genetic architecture of traits and diseases using population and family-based data.
  9. Bioinformatics and Computational Approaches – Abstracts should be submitted to this category if your work focuses on the development, improvement, or use of bioinformatics tools for novel biological discovery. Content appropriate for this section should focus more on the technique rather than disease or biology-specific questions.
  10. Molecular Phenotyping and Omics Technologies – Abstracts should be submitted to this category if your work focuses on the development or improvement of large-scale functional approaches (e.g., genome sequencing, ChIP-seq, RNA-seq, proteomics, etc.) for novel biological discovery. Content appropriate for this section should focus more on the technique rather than disease or biology-specific questions.
  11. Molecular and Cytogenetic Diagnostics – Abstracts should be submitted to this category if your work focuses on cutting-edge technologies or novel uses of traditional methods to facilitate the detection (molecular or cytogenetic) and diagnosis of genetic disorders. Abstracts that present novel strategies for laboratory testing and provide new insights into the detection of mutations are appropriate.
  12. Genetic Counseling, ELSI, Education, and Health Services Research – Abstracts should be submitted to this category if your work focuses on: (1) outcomes regarding the process of helping people understand and adapt to the implications of genetic contributions to disease (e.g., issues around family history, risk assessment and communication, decision-making, informed choice, psychosocial adaptation, and stakeholder preferences); (2) ethical, legal, social, and policy issues related to the use or application of genomic information to individuals or populations (e.g., data sharing, privacy, informed consent, return of genetic test results, and social/cultural implications); (3) the effectiveness of educational programs targeting specific audiences (e.g., undergraduate or graduate education, medical education, or education of healthcare providers or the public); and/or (4) multidisciplinary considerations of how social factors, financing systems, organizational structures and processes, health technologies, and personal behaviors affect access to health care, the quality and cost of health care, and ultimately public and personal health and well-being.


If your submission focuses on a clinical phenotype or a related trait or biological system, please select the most appropriate category; please avoid “Other” if at all possible. If clinical phenotypes or specific biological systems do not apply to your submission, please select “Not Applicable”.

Cardiovascular Diseases
Connective Tissue and Skin Diseases
Diabetes, Obesity, and Metabolic Syndromes
Diseases of Internal Organs and of the Endocrine System
Diseases of the Skeletal System
Immunological and Hematopoietic Diseases
Intellectual Disability
Lipid Phenotypes
Longevity and Healthy Aging
Mitochondrial and Biochemical Disorders
Multiple Malformations and Syndromes
Muscle Disorders
Neurological and Neuromuscular Diseases
Psychiatric Disorders
Sensory Disorders Including Impaired Vision and Hearing
Not Applicable


  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
  69. FISH
  70. Fragile X syndrome and FXTAS
  71. Functional motifs
  72. Gastrointestinal system
  73. Gene environment interaction
  74. Gene families
  75. Gene localization
  76. Gene regulation
  77. Gene therapy
  78. Gene transfer
  79. Genetic counseling
  80. Genetic diversity
  81. Genetic epidemiology
  82. Genetic instability
  83. Genetic mapping
  84. Genetic testing
  85. Genitourinary system
  86. Genome editing/CRISPR
  87. Genome sequencing
  88. Genome-wide association
  89. Genomic structure
  90. Genomics
  91. Genotype-phenotype correlations
  92. Haplotype
  93. Hematopoietic system
  94. Heritability
  95. Identification of disease genes
  96. Immune system
  97. Imprinting
  98. Infectious disease
  99. Infertility
  100. Inheritance modeling
  101. Inheritance patterns
  102. Intellectual and developmental disability
  103. Limb
  104. Linkage disequilibrium
  105. Linkage mapping
  106. Linkage methods
  107. Lymphatic system
  108. Lysosomal diseases
  109. Malformation
  110. Massively parallel sequencing
  111. Maternal serum screening
  112. Mathematical modeling
  113. Meiosis
  114. Mendelian disorder
  115. Mendelian randomization
  116. Metabolic disorder
  117. Metabolomics
  118. Methodology
  119. Methylation
  120. Microarrays
  121. Microbiome
  122. MicroRNA
  123. Mitochondria
  124. Model organisms
  125. Molecular cytogenetics
  126. Molecular pathophysiology
  127. Morphogenesis
  128. Mosaicism
  129. Muscular abnormalities
  130. Mutation detection
  131. Myotonic dystrophies
  132. Natural history
  133. Natural selection
  134. Nervous system
  135. Neurodegeneration
  136. Neurogenetics
  137. Newborn screening
  138. NIPT
  139. Noncoding RNA
  140. Obesity
  141. Oncogenesis
  142. Organic acidurias
  143. Pathogenesis
  144. Peroxisomal diseases
  145. Pharmacodynamics
  146. Pharmacogenomics
  147. Pharmacokinetics
  148. Pharmacologic therapy
  149. Phenome-wide association
  150. Phenotype
  151. Policy issues
  152. Polyalanine disorders
  153. Polyglutamine diseases
  154. Polymorphism
  155. Population genetics
  156. Population structure
  157. Precision medicine
  158. Preclinical trial
  159. Preimplantation diagnosis
  160. Prenatal diagnosis
  161. Protein structure
  162. Proteomics
  163. Psychiatric genetics
  164. Psychosocial issues
  165. Public health
  166. Quantitative trait
  167. Rare variants
  168. Regulation of transcription
  169. Reproductive genetics
  170. Respiratory system
  171. Risk assessment
  172. RNA
  173. RNA pathology
  174. RNA-seq
  175. RNAi
  176. Single-cell
  177. Skeletal system
  178. SNP analysis/discovery
  179. Splicing mechanisms
  180. Statistical genetics
  181. Stem cell(s)
  182. Susceptibility locus
  183. Systems biology
  184. Tandem mass spectroscopy
  185. Targeted sequencing
  186. Telomere structure/function
  187. Teratogens
  188. Transcription
  189. Transcription factor
  190. Transcriptome
  191. Transgenic model
  192. Translational studies and preclinical trials
  193. Transplantation
  194. Transposable elements
  195. Triplet and other repeats
  196. Ultrasound diagnosis
  197. Uniparental disomy
  198. Variant calling
  199. Viral vectors
  200. Visual systems
  201. X-inactivation
  202. X-linked disease


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