Abstract Submission: Topic Categories

Please review all of the information below and carefully select one Main Topic and one Subtopic for your submission. 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.


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