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Related Concept Videos

Genomics02:02

Genomics

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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-GWAS01:11

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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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Incomplete Dominance01:43

Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Where the Genetic Code Meets the Zip Code: Advancing Equity in Rare Disease Genomics.

Monica H Wojcik, Hadley S Smith, Yarden S Fraiman

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    Genomic medicine aims for personalized care but faces disparities. Incorporating patient illness narratives into rare disease genomics can advance health equity and justice.

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    Area of Science:

    • Genomic Medicine
    • Health Equity
    • Rare Disease Genomics

    Background:

    • Genomic medicine offers personalized healthcare based on individual genetic variations.
    • Significant disparities and inequities exist within genomic medicine.
    • Previous research on inequities focused on well-defined genetic testing populations.

    Purpose of the Study:

    • To examine inequities in rare disease genomics.
    • To propose ecosocial theory and illness narratives for equity-focused initiatives.
    • To integrate patient narratives into clinical genetics and genomics.

    Main Methods:

    • Analysis of the current landscape of rare disease genomics.
    • Application of ecosocial theory to guide equity initiatives.
    • Incorporation of narrative medicine examples in rare disease.

    Main Results:

    • Rare disease genomics has variable diagnostic approaches and utility.
    • Ecosocial theory and illness narratives offer a path toward equity.
    • Narrative medicine can enhance genomic sequencing studies.

    Conclusions:

    • Integrating illness narratives into genomic practice is crucial for equity.
    • Broadening definitions of disease and outcomes is necessary.
    • Addressing historical inequities is essential for genomic medicine to fulfill its promise.