Development, improvement, or use of bioinformatics tools for novel biological discovery. Appropriate content should focus more on the method or approach rather than disease or biology-specific questions.

Genetic basis of complex traits (e.g., cardiovascular, psychiatric, and neurological traits) and/or on treating these diseases (e.g., therapy, pharmacogenetics). Note that development of statistical or bioinformatic methods to study complex traits and polygenic disorders are likely to be more appropriate for the topics Bioinformatics and Computational Approaches or Statistical Genetics and Genetic Epidemiology.

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. 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.

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.

(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.

Identification of novel loci (including modifiers), advances in our understanding of the molecular pathology or phenotypic spectrum, and/or current concepts in treating Mendelian diseases.

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.

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.

Molecular characterization of diseases or traits; development or improvement of large-scale functional approaches (e.g., genome sequencing, ChIP-seq, RNA-seq, proteomics, 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.

How genetic factors or molecular phenotypes influence individual risk of disease and/or inform clinical decision-making, e.g., polygenic risk scores; how genomic differences contribute to variability in drug response across individuals, including both therapeutic and adverse effects; or advances in the treatment of genetic and metabolic disorders in humans or animal models, using gene therapy, gene editing, oligonucleotides, antibodies, small molecules, cell-based therapies, etc.

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 methods development and their application to elucidate the genetic architecture of traits and diseases using population and family-based data.