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Abstract Submission Topic Categories

Click here to see topic category definitions.

 

Bioinformatics and Genomic Technology

  • Bioinformatics/computational tools
  • Genome sequencing and assembly
  • Methods for big data integration
  • Model organism genomics
  • Technology advancement
  • Other

 

Cancer Genetics

  • Analysis of candidate genes/regions and fine mapping
  • Animal models of inherited cancer and predisposition
  • Cancer epidemiology and genome-wide association studies
  • Chromosomal and other large-scale genomic changes in cancer
  • Chromosomal instability and DNA repair abnormalities
  • Clinical description, prognosis, and treatment of known cancer syndromes
  • Epigenetic changes in cancer
  • Functional studies of associated variants or loci
  • Genetic markers of diagnosis, prognosis and/or response to therapy
  • New cancer susceptibility syndromes
  • Sequencing/somatic mutations or somatic cancer genetic studies
  • Other

 

Cardiovascular Genetics

  • Candidate genes/regions and fine mapping
  • Description of new syndromes
  • Development
  • Diagnostic methods
  • Functional studies of associated variants or loci
  • Gene–environment interactions
  • Genome-wide association studies
  • Pathway and system biology approaches
  • Sequencing studies/rare variants
  • Other

 

Clinical Genetics and Dysmorphology

  • Chromosomal disorders
  • Contiguous gene/microdeletion disorders
  • Multiple congenital anomaly disorders
  • Single gene/mendelian disorder
  • Other

 

Clinical Genetic Testing

  • Demonstration of new laboratory technology in/for a clinical setting
  • Laboratory experiences regarding genetic/genomic testing/screening
  • New testing/screeing technologies
  • Utilization of clinical testing/screening
  • Other

 

Complex Traits and Polygenic Disorders

  • Candidate genes/regions and fine mapping
  • Functional studies of associated variants or loci
  • Gene/environment interactions
  • Generalization of association results across ancestries
  • Genome-wide association studies
  • Integration of linkage/IBD and association methods
  • Joint application of statistical and molecular methods
  • Missing heritability
  • Model systems of complex disease or gene interactions
  • Pathway network/system genetics analyses of traits/diseases
  • Replication of susceptibility genes/alleles
  • Use of Biobanks and EHRs
  • Whole exome/genome sequencing studies/rare variants
  • Other

 

Cytogenetics

  • Chromosome structure
  • Copy number/structural genomic variation
  • Cytogenetic studies
  • Meiosis
  • Mitosis
  • Molecular cytogenetic technologies (eg, FISH, microarrays, etc.)
  • Other

 

Development

  • Ciliopathies
  • Developmental origins of adult disease
  • Imprinting
  • Model organism
  • Neural crest migration
  • X-inactivation
  • Other

 

Epigenetics

  • DNA methylation
  • Histone modification
  • Imprinting
  • Twin studies
  • X-inactivation
  • Other

 

Ethical, Legal, Social and Policy Issues in Genetics

  • Data sharing and data availability
  • Electronic health records
  • Ethical dilemmas
  • Legal and social implications of genetics/genomics
  • Policy issues and how research can inform debate
  • Public consultation
  • Public health Issues
  • Return of genetic test results
  • Other

 

Evolutionary and Population Genetics

  • Admixture and ancestry analysis
  • Comparative genomics
  • Linkage disequilibrium/recombination
  • Molecular evolution
  • Mutation and polymorphism
  • Natural selection and adaptation
  • Population history and relationships
  • Population isolates and founder mutations
  • Rare variants
  • Other

 

Genetic Counseling

  • Genetic counseling
  • Genetic screening
  • Predisposition testing
  • Psychosocial Issues
  • Risk assessment
  • Other

 

Genetics/Genomics Education

  • Continuing/professional
  • Graduate and medical
  • Primary and secondary education (K-12)
  • Public
  • Undergraduate
  • Other

 

Genome structure, variation and function

  • Chromatin characteristics/nuclear organization
  • Copy number variation
  • Descriptive analyses of sequence variation
  • Genomic responses in differentiation, disease, stress or stimulation
  • Microbiomes
  • Non-coding RNA
  • Posttranscriptional regulation/RNA editing
  • Sequence-based lexicons of functional elements
  • Transcription regulation
  • Transcriptomic/proteomic signatures
  • Other

 

Health Services Research

  • Economic outcomes
  • Effectiveness research
  • Genetic service delivery models
  • Implementation
  • Quality improvement
  • Other

 

Metabolic Disorders

  • Biochemical basis of disease
  • Characterization of new disorders
  • Diagnostic methods
  • Molecular basis of an inborn error
  • Natural history of known disorders
  • Newborn screening
  • Treatment of metabloic disease
  • Other

 

Molecular Basis of Mendelian Disorders

  • Animal models and phenotype synthesis
  • Biochemical characterization
  • Cardiovascular disorders
  • Endocrinological defects
  • Gastrointestinal disorders
  • Hematopoietic/immunologic defects
  • Linkage/candidate genes/regions
  • Multiple congenital anomaly syndromes
  • Neurogenetic disorders
  • Phenotype-directed functional characterization
  • Renal/genitourinary defects
  • Skeletal disorders
  • Targeted/whole exome/genome sequencing studies
  • Other

 

Pharmacogenetics

  • Candidate genes/regions and fine mapping
  • Functional studies of associated variants or loci
  • Genome-wide association studies
  • Implementation of individualized medicine
  • Pharmacodynamics
  • Pharmacokinetics
  • Sequencing studies/rare variants
  • Small molecule screening and in vitro
  • Use of biobanks and EHRs
  • Other

 

Prenatal, Perinatal and Reproductive Genetics

  • Assisted reproductive technologies
  • Fetal imaging
  • Fetal therapy
  • Genetic screening
  • Gynecologic complications
  • Infertility
  • Maternal serum screening
  • Preimplantation diagnosis
  • Prenatal diagnosis
  • Preterm birth
  • Other

 

Psychiatric Genetics, Neurogenetics and Neurodegeneration

  • Candidate genes/regions and fine mapping
  • Development
  • Diagnostic methods
  • Functional studies of associated variants or loci
  • Gene–environment interactions
  • Genome–wide association studies
  • Neuroimaging genetics
  • Phenotypic definitions and subphenotyping
  • Predictors of progression and response to treatment
  • Quantitative trait analyses
  • Sequencing studies/rare variants
  • Tandem repeats, triplet expansions and disease
  • Other

  

Statistical Genetics and Genetic Epidemiology

  • Analysis of functional genomics and proteomics data
  • Analysis of risk, genotype/phenotype and penetrance
  • Association analysis methods
  • Data integration methods
  • Data quality control and pre-processing
  • Gene–gene and gene–environment interaction modeling
  • Identity-by-descent methods
  • Linkage analysis methods
  • Mode of inheritance inference and segregation analysis
  • Pathway and network analysis and systems genetic analysis
  • Sequence-based genetic analysis
  • Statistical analysis programs/software
  • Study design
  • Other

 

Therapy for Genetic Disorders

  • Bone marrow or whole organ transplantation
  • Dietary therapy
  • Drug treatments
  • Enzyme replacement therapy
  • Gene therapy
  • RNAi therapies
  • Other

 

 

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