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Related Concept Videos

Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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The genome refers to all of the genetic material in an organism. It can range from a few million base pairs in microbial cells to several billion base pairs in many eukaryotic organisms. Genome assembly refers to the process of taking the DNA sequencing data and putting it all back together in a correct order to create a close representation of the original genome. This is followed by the identification of functional elements on the newly assembled genome, a process called genome annotation.
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Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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Hashtag who's missing? Lessons for genomic databases.

Angela G Villanueva1, Mary A Majumder1

  • 1Center for Medical Ethics and Health Policy, Baylor College of Medicine, One Baylor Plaza, Suite 310D, Houston, TX, 77030, USA.

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|August 14, 2020
PubMed
Summary
This summary is machine-generated.

Genomic databases aim for diversity, but enrolling minors with disabilities presents challenges. Participant-centric approaches must navigate differing views on conditions like autism, balancing inclusion with ethical considerations.

Keywords:
AutismGenomic databasesNeurodiversityParticipant engagementPrecision medicine

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Area of Science:

  • Genomics
  • Bioethics
  • Disability Studies

Background:

  • Genomic databases are crucial for disease research, requiring diverse participant populations.
  • Inclusion of underrepresented groups, including people with disabilities, is essential for database utility.
  • Participant-centric approaches are advocated to build trust and overcome enrollment barriers.

Purpose of the Study:

  • To explore participant-centric engagement in genomic databases for individuals with disabilities, particularly minors.
  • To address complexities arising from divergent perspectives between minors and parents regarding disability and research priorities.
  • To offer recommendations for ethical participant engagement and enrollment measures for minors with conditions debated as difference versus disease.

Main Methods:

  • Analysis of public discourse surrounding genomic databases (e.g., MSSNG) and neurodiversity.
  • Examination of ethical considerations in genomic research involving minors with disabilities.
  • Review of participant-centric models in the context of differing views on disability identity and disease.

Main Results:

  • Enrollment of minors with disabilities in genomic databases necessitates careful consideration of evolving participant perspectives.
  • Disagreements regarding the nature of a condition (e.g., autism as difference vs. disease) complicate participant-centric approaches.
  • Balancing parental consent with the evolving autonomy of minors with disabilities is a key ethical challenge.

Conclusions:

  • Genomic databases must develop nuanced strategies for participant engagement, especially for minors with disabilities.
  • Recommendations include transparent communication, respecting diverse viewpoints, and establishing clear ethical guidelines for enrollment.
  • Addressing the difference-disease debate is critical for inclusive and ethical genomic research practices.