Abstract Submission Topic Categories

Mendelian Phenotypes
Complex Traits and Polygenic Disorders
Bioinformatics and Computational Approaches
Statistical Genetics and Genetic Epidemiology
Evolution and Population Genetics
Omics Technologies
Genome Structure and Function
Epigenetics and Gene Regulation
Developmental Genetics and Gene Function
Prenatal, Perinatal, and Reproductive Genetics
Molecular and Cytogenetic Diagnostics
Genetic Counseling, ELSI, Education, and Health Services Research

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. In the event that 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., what type of content would you like the presentation, if accepted, to be grouped with?).

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. 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.

4. 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.

5. 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.

6. 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.

7. Genome Structure and Function – Abstracts should be submitted to this category if your work focuses on the use of large-scale functional approaches to study the enormous plasticity of genomes, primarily at CNV or larger level (e.g., cytogenetics). Genome and gene structure and its variability, transcription and translation, and functional studies are also appropriate. Please note that research focusing on experimental method development or improvement may be more appropriate for “Omics Technologies”.

8. 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. Content appropriate for this topic include, but are not limited to, global and local studies on transcription factor binding, changes in gene expression, regulatory variation, enhancer and promoter usage, imprinting, X-chromosome inactivation, DNA methylation, histone modifications, and chromatin conformation.

9. Developmental Genetics and Gene Function – Abstracts should be submitted to this category if your work focuses on 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 include, but are not limited to, the use of molecular, biochemical, cellular, and animal models to study development and gene function.

10. Prenatal, Perinatal, and Reproductive Genetics – Abstracts should be submitted to this category if your work focuses on prenatal diagnosis of genetic disorders, genetic contributions to complications of pregnancy, and genetics related to reproductive biology, including infertility.

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 and other metabolic diseases
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 Disorders
Multiple Malformations and Syndromes
Muscle Disorders
Neurological and Neuromuscular Diseases
Psychiatric Disorders
Sensory Disorders Including Impaired Vision and Hearing
Not Applicable
Other