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.

Subtopics

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”.

Cancer
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
Dysmorphologies
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
Other

Keywords

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