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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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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Genomic DNA in Prokaryotes00:46

Genomic DNA in Prokaryotes

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The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
Genomic Diversity in Bacteria
Although bacterial genomes are much...
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Genomic DNA in Eukaryotes00:58

Genomic DNA in Eukaryotes

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Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.
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Competitive Genomic Screens of Barcoded Yeast Libraries
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Expanding newborn screening through genomics.

Laurie M Connors1

  • 1University of South Florida College of Nursing, Tampa FL USA.

Journal of the American Association of Nurse Practitioners
|February 5, 2026
PubMed
Summary
This summary is machine-generated.

Genomic sequencing in newborn screening (NBS) can find treatable conditions in infants. Advanced practice nurses play a key role in educating families and navigating ethical considerations for genomic NBS.

Keywords:
Newborn screeningNurse Practitionersgenomicswhole-genome sequencing

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Area of Science:

  • Genomics
  • Public Health
  • Pediatric Medicine

Background:

  • Newborn screening (NBS) traditionally uses biochemical tests for rare conditions.
  • Genomic sequencing, like whole-genome sequencing (WGS), can identify thousands of variants for pediatric disorders.
  • Genomic NBS presents new opportunities and challenges in clinical practice, ethics, and policy.

Purpose of the Study:

  • Explore implications of genomic NBS for advanced practice nursing.
  • Examine lessons from the NIH-funded BabySeq Project.
  • Analyze the policy precedent of Florida's Sunshine Genetics Act for WGS-NBS.

Main Methods:

  • Review of the BabySeq Project findings.
  • Analysis of Florida's Sunshine Genetics Act.
  • Discussion of advanced practice nursing roles in genomic NBS.

Main Results:

  • Genomic sequencing identified actionable variants in ~9% of infants in the BabySeq Project.
  • Ethical tensions arose regarding adult-onset findings and "family benefit."
  • Florida's Act expands NBS, aiming to reduce diagnostic odysseys and promote equity.

Conclusions:

  • Genomic NBS offers potential for improved pediatric outcomes through early diagnosis.
  • Nurse practitioners are crucial for genomic education, ethical decision-making, and care navigation.
  • Workforce competency and equitable policies are essential for successful genomic NBS implementation.