Abstracts should be submitted to one of the following topics. If your submission fits multiple categories, please select the one that would be most appropriate for peer review and placement in the program. Appropriate selection of these topics will allow the Program Committee to: (1) accurately assess your submission; and, if selected, (2) schedule your presentation in the meeting program alongside similar and complementary content.
- Cancer (I, II, III, IV)
Molecular, cellular, and genetic basis of cancer. Includes studies on inherited susceptibility loci and molecular characterization of tumors. Diagnostic strategies, precision medicine, epidemiological studies, and computational approaches that are specifically applied to cancer are most appropriate in this group of topics.
- Molecular and cytogenetic diagnostics, precision medicine and gene therapies
- Genetic epidemiology and gene-environment interactions
- Molecular effects of genetic variation
- Tumor genome landscape studies including bioinformatics, computational, and comparative approaches for cancer genomics
- Complex Traits and Polygenic Disorders (I-V)
Genetic basis of complex traits (e.g., cardiovascular, psychiatric, and neurological traits). Note that development of statistical or bioinformatic methods to study complex traits and polygenic disorders are likely to be more appropriate for the topic Statistical Genetics and Genetic Epidemiology.
- Cardiovascular disease and lipid phenotypes
- Diabetes, obesity, metabolic syndromes, diseases of internal organs and of the endocrine system
- Infectious disease and immunological disorders
- Psychiatric, neurological and neuromuscular disorders
- Other phenotypes or multiple disorders
- Epigenetics (I-III)
The role of the epigenome in health and disease; molecular mechanisms by which epigenetic changes cause phenotypic variation; and large-scale integrative and/or comparative analyses of the epigenome. The topic area includes understanding the critical biological mechanisms that alter or influence cell fate decisions. Appropriate content includes, 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.
- Epigenetic contributions to specific disorders
- Molecular mechanisms of epigenetic variation and downstream effects
- Genome-scale, integrative, and/or comparative epigenomic analyses
- Evolutionary and Population Genetics
Empirical and theoretical research on the patterns and determinants of genetic variation within and between populations, especially as they relate to major mechanisms of evolution and their effect on phenotypes. Examples of these mechanisms include genetic drift, natural selection, mutation, admixture, and migration, which can be studied on both modern and ancient individuals.
- Genetic Counseling, ELSI, Education, and Health Services Research
Any research related to genetic counseling including 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). All 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). The effectiveness of educational programs targeting specific audiences. 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.
- Genetic Therapies
Identification of therapeutic targets and development of treatment paradigms for genetic conditions. Includes pathway-based or agnostic screening in cellular or animal models, gene therapy, gene editing, oligonucleotides, antibodies, small molecules, cell-based therapies, etc. Spans preclinical studies of safety and efficacy in model systems to clinical trials in humans. Note that therapies for Cancer are more appropriate in the Cancer group of topics and genetic predictors of treatment response is more appropriate in the Pharmacogenomics topic.
- Genetic, Genomic, and Epigenomic Resources and Databases
Community data-sharing platforms, trait- or disease-specific resources, and annotated datasets for reanalysis or application to a broad range of disorders. Note that hypothesis-driven studies are more appropriate for other topics (e.g. Cancer, Complex Traits and Polygenic Disorders, Mendelian Phenotypes). Also, consider Statistical Genetics and Genetic Epidemiology or Omics Technologies as more appropriate for methods development or technology application, respectively.
- Mendelian Phenotypes (I-IV)
Identification of novel loci (including modifiers), novel pleiotropic effects or phenotypic expansion, advances in our understanding of the molecular pathology or phenotypic spectrum, in vitro or in vivo models of Mendelian disorders, and cohort studies. Note that treatment development for this group of disorders is more appropriate for the Genetic Therapies topic.
- Dysmorphologies and multiple malformation syndromes
- Intellectual disability, neurological, neuromuscular, and psychiatric disorders
- Mitochondrial, muscle, biochemical, skeletal, connective tissue, and skin disorders
- Other phenotypes
- Molecular and Cytogenetic Diagnostics (I-II)
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. Note that diagnostic approaches for Cancer are more appropriate in the Cancer group of topics.
- Dysmorphologies, intellectual disability, and multiple malformation syndromes
- Other phenotypes, methods, and technologies
- Molecular Effects of Genetic Variation (I-III)
Effects that genetic variants have on cellular or molecular traits. Content appropriate for this section includes QTL mapping of gene 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 variants.
- Molecular and cellular consequences of discrete genetic variation
- Population-scale studies of genetic variant effects
- Integrative and comparative analyses of the effects of genetic variation
- Omics Technologies (I-II)
Molecular characterization of diseases or traits; development or improvement of large-scale functional approaches (e.g., genome sequencing, ChIP-seq, RNA-seq, proteomics, metabolomics, etc.); and/or use of such techniques for novel biological discovery. Appropriate content should focus more on the technique rather than disease- or biology-specific questions.
- Biological and clinical applications
- New experimental and computational technologies
How genetic factors or molecular phenotypes influence individual risk of disease and/or inform clinical decision-making, e.g., how genomic differences contribute to variability in drug response across individuals, including both therapeutic and adverse effects. Note that development of a treatment for a genetic disorder would be included in the Genetic Therapies topic.
- Prenatal, Perinatal, and Developmental Genetics
Prenatal diagnosis of genetic disorders; genetic contributions to complications of pregnancy; genetics related to reproductive biology, including infertility; and/or genetic basis of embryonic and postnatal development and growth. Appropriate content includes, but is not limited to, the use of molecular, biochemical, cellular, and animal models to study genetics of reproduction and development.
- Statistical Genetics and Genetic Epidemiology (I-II)
Statistical methods development and their application to elucidate the genetic architecture of traits and diseases using population or family-based data.
- Novel methods and approaches
- Application to specific phenotypes