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American Society of Human Genetics - San Diego - October 18-22, 2014 Contact Search
 

Abstracts

 
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Abstract Submission Topic Categories

Click here to see topic category definitions.

 

1. Bioinformatics and Genomic Technology

Definition: Abstracts should be submitted to this category if your research includes the use of bioinformatics or genomics for novel biological discovery, and/or improvements in methods and computational tools.

  1. Novel bioinformatics/computational tools and methods
  2. Improvements on existing bioinformatics/computational tools or updated versions
  3. Use of existing bioinformatic methods for novel discovery
  4. Methods/tools for variant calling in human genomes
  5. Genome sequencing and assembly
  6. Methods for data integration
  7. Model organism genomics
  8. Technology advancement
  9. Other

 

2. Cancer Genetics

Definition: Abstracts should be submitted to this category if your work addresses the genetic basis of inherited cancers and cancer epidemiology or the genetic, epigenetic, cytogenetic and genomic changes that occur as cancer develops.

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

 

3. Cardiovascular Genetics

Definition: Abstracts should be submitted to this category if your genetic research focuses on the identification, characterization and measurement of risk factors for simple (Mendelian, syndromic) and complex human cardiovascular diseases.

  1. Candidate genes/regions and fine mapping
  2. Description of new syndromes
  3. Diagnostic methods
  4. Functional studies of associated variants or loci
  5. Gene–environment interactions
  6. Genome-wide association studies
  7. Pathway and system biology approaches
  8. Sequencing studies/rare variants
  9. Other

 

4. Clinical Genetics and Dysmorphology

Definition: Abstracts should be submitted to this category if your work addresses the delineation, description, and natural history of classes of disorders listed in the subtopics. Abstracts that present new, detailed cytogenetic or molecular characterization may be more appropriate for other topics, such as Cytogenetics or Molecular Basis of Mendelian Disorders.

  1. Chromosomal disorders
  2. Contiguous gene/microdeletion disorders
  3. Multiple congenital anomaly disorders
  4. Single gene/mendelian disorder
  5. Other

 

5. Clinical Genetic Testing

Definition: Abstracts should be submitted to this category if your research includes the cutting- edge technologies or novel uses of traditional methods to facilitate the detection and diagnosis of genetic disorders. Abstracts that present novel strategies for laboratory testing and provide new insights into the detection of mutations are appropriate.

  1. Demonstration of new laboratory technology in/for a clinical setting
  2. Laboratory experiences regarding genetic/genomic testing/screening
  3. New testing/screeing technologies
  4. Utilization of clinical testing/screening
  5. Other

 

6. Complex Traits and Polygenic Disorders

Definition: Abstracts should be submitted to this category if your research has a primary focus on the genetic basis of complex traits. Abstracts on cardiovascular, psychiatric and neurological traits or on development of statistical or bioinformatic methods are likely to be more appropriate for those specific topics.

  1. Whole exome/genome sequencing studies/rare variants
  2. Candidate genes/regions and fine mapping
  3. Functional studies of associated variants or loci
  4. Model systems of complex disease or gene interactions
  5. Missing heritability
  6. Genome-wide association studies
  7. Replication of susceptibility genes/alleles
  8. Gene/environment interactions
  9. Pathway network/system genetics analyses of traits/diseases
  10. Integration of linkage/IBD and association methods
  11. Joint application of statistical and molecular methods
  12. Use of Biobanks and EHRs
  13. Other

 

7. Cytogenetics

Definition: Abstracts should be submitted to this category if your research involves the study of the structure and function of chromosomes and deals with descriptions of copy number and structural genomic variations. Works that addresses a variety of technologies to study chromosome morphology such as FISH and microarrays also is appropriate.

  1. Chromosome structure
  2. Copy number/structural genomic variation
  3. Cytogenetic studies
  4. Molecular cytogenetic technologies (eg, FISH, microarrays, etc.)
  5. Other

 

8. Development

Definition: Abstracts should be submitted to this category if your research involves the genetic basis of embryonic and postnatal development and growth, including basic and/or model organism-based research elucidating the mechanisms of developmental abnormalities. Ciliopathies and neural crest migration studies are also included.

  1. Ciliopathies
  2. Developmental origins of adult disease
  3. Model organism
  4. Neural crest migration
  5. Other

 

9. Epigenetics

Definition: Abstracts should be submitted to this category if your research includes heritable changes in gene expression caused by mechanisms other than changes in DNA sequence. Studies of imprinting, X-chromosome inactivation, DNA methylation, histone modifications and chromatin conformation are all appropriate for this topic.

  1. DNA methylation
  2. Histone modification
  3. Imprinting
  4. Twin studies
  5. X-inactivation
  6. Other

 

10. Ethical, Legal, Social and Policy Issues in Genetics

Definition: Abstracts should be submitted to this category if your research includes ethical, legal, social and policy issues related to use of genomic information or its application. Examples include data sharing, privacy, informed consent, return of genetic test results and social/cultural implications.

  1. Data sharing and privacy issues
  2. Informed consent
  3. Policy, legal and regulatory issues
  4. Return of genetic test results
  5. Social and cultural implications of genetic and genomic technologies
  6. Other

 

11. Evolutionary and Population Genetics

Definition: Abstracts should be submitted to this category if your research involves empirical and theoretical research on the patterns and determinants of genetic variation within and between populations.

  1. Admixture and ancestry analysis
  2. Comparative genomics
  3. Linkage disequilibrium/recombination
  4. Molecular evolution
  5. Mutation and polymorphism
  6. Natural selection and adaptation
  7. Population history and relationships
  8. Population isolates and founder mutations
  9. Rare variants
  10. Other

 

12. Genetic Counseling

Definition: Abstracts should be submitted to this category if your research focuses on outcomes regarding the process of helping people understand and adapt to the implications of genetic contributions to disease. Examples include issues around family history, risk assessment and communication, decision-making, informed choice, psychosocial adaptation and stakeholder preferences.

  1. Counseling and communication strategies
  2. Decision making
  3. Family history
  4. Psychosocial responses and adaptation to genetic testing
  5. Risk assessment and risk perception
  6. Stakeholder preferences and attitudes
  7. Other

 

13. Genetics/Genomics Education

Definition: Abstracts should be submitted to this category if your research deals with the effectiveness of educational programs targeting specific audiences, e.g., undergraduate or graduate education, medical education, or education of healthcare providers or the public.

  1. Continuing/professional
  2. Graduate and medical
  3. Primary and secondary education (K-12)
  4. Public
  5. Undergraduate
  6. Other

 

14. Genome structure, variation and function

Definition: Abstracts should be submitted to this category if your research focuses on the enormous plasticity of genomes, primarily at CNV or larger level as opposed to single nucleotide variation. Genome and gene structure and its variability, transcription and proteins, and functional studies in different categories as listed in the subtopics also are appropriate.

  1. Transcription regulation
  2. Non-coding RNA
  3. Posttranscriptional regulation/RNA editing
  4. Transcriptomic/proteomic signatures
  5. Genomic responses in differentiation, disease, stress or stimulation
  6. Microbiomes
  7. Chromatin characteristics/nuclear organization
  8. Copy number variation
  9. Descriptive analyses of sequence variation
  10. Expression quantitative trait locus (eQTL) studies
  11. Other

 

15. Health Services Research

Definition: Abstracts should be submitted to this category if your research is in a multidisciplinary field that studies 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 health and well-being.

  1. Access to care
  2. Clinical utility and translation of new technologies
  3. Economic outcomes
  4. Genetic service delivery models and tool
  5. Outcomes research
  6. Other

 

16. Metabolic Disorders

Definition: Abstracts should be submitted to this category if your research focuses on single-gene inborn errors of metabolism. The genetics of metabolic pathways involved in complex disorders (e.g., stroke, diabetes) may be more appropriate for other topics, such as Cardiovascular Genetics or Complex Traits.

  1. Biochemical basis of disease
  2. Characterization of new disorders
  3. Diagnostic methods
  4. Molecular basis of an inborn error
  5. Natural history of known disorders
  6. Newborn screening
  7. Treatment of metabolic disease
  8. Other

 

17. Molecular Basis of Mendelian Disorders

Definition: Abstracts should be submitted to this category if your research includes diseases caused by a single locus. 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).

  1. Animal models and phenotype synthesis
  2. Linkage/candidate genes/regions
  3. Targeted/whole exome/genome sequencing studies
  4. Hematopoietic/immunologic defects
  5. Renal/genitourinary defects
  6. Endocrinological defects
  7. Biochemical characterization
  8. Phenotype-directed functional characterization
  9. Gastrointestinal disorders
  10. Neurogenetic disorders
  11. Skeletal disorders
  12. Other

 

18. Pharmacogenetics

Definition: Abstracts should be submitted to this category if your research focuses on how genetic differences influence the observed variations among individuals in drug response, including both therapeutic and adverse effects.

  1. Candidate genes/regions and fine mapping
  2. Functional studies of associated variants or loci
  3. Genome-wide association studies
  4. Implementation of individualized medicine
  5. Pharmacodynamics
  6. Pharmacokinetics
  7. Sequencing studies/rare variants
  8. Small molecule screening and in vitro
  9. Other

 

19. Prenatal, Perinatal and Reproductive Genetics

Definition: Abstracts should be submitted to this category if your research focuses is on prenatal diagnosis of genetic disorders, genetic contributions to complications of pregnancy, and genetics related to reproductive biology, including infertility.

  1. Assisted reproductive technologies
  2. Fetal imaging
  3. Genetic screening
  4. Gynecologic complications
  5. Infertility
  6. Maternal serum screening
  7. Preimplantation diagnosis
  8. Prenatal diagnosis
  9. Preterm birth
  10. Other

 

20. Psychiatric Genetics, Neurogenetics and Neurodegeneration

Definition: Abstracts should be submitted to this category if your work’s primary focus is on the genetic basis of neurological and psychiatric diseases or traits, or the normal organization, and function of the nervous system.

  1. Candidate genes/regions and fine mapping
  2. Genome–wide association studies
  3. Sequencing studies/rare variants
  4. Development
  5. Diagnostic methods
  6. Functional studies of associated variants or loci
  7. Gene–environment interactions
  8. Neuroimaging genetics
  9. Phenotypic definitions and subphenotyping
  10. Predictors of progression and response to treatment
  11. Tandem repeats, triplet expansions and disease
  12. Other

 

21. Statistical Genetics and Genetic Epidemiology

Definition: Abstracts should be submitted to this category if your research concentrates on statistical methods development and their application to elucidate the genetic architecture of traits and diseases using population and family-based data.

  1. Aggregate/Burden Association Methods for Rare Variants
  2. Statistical analysis programs/software
  3. Analysis of risk, genotype/phenotype, penetrance and individual variants association methods
  4. Study Design, Quality control, Pre-Processing, Population Stratification adjustments
  5. Family based association, identity-by-descent, linkage or segregation methods
  6. Pathway, network, Systems Analysis, Gene x Gene and Gene x Environment Anayses
  7. Other

 

22. Therapy for Genetic Disorders

Definition: Abstracts should be submitted to this category if your research covers advances in the treatment of genetic/metabolic disorders in humans or animal models, using genetic manipulation, small molecules, cell-based therapies, pharmacotherapy, etc.

  1. Drug treatments
  2. Enzyme replacement therapy
  3. Gene therapy
  4. RNAi therapies
  5. Other

 

 

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