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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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Decision Making01:20

Decision Making

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Decision-making is a fundamental cognitive process that involves evaluating alternatives and selecting among them. This process can range from simple choices, such as deciding what to wear, to complex decisions, like choosing a major in college or a career path. The complexity of the decision often dictates the approach we use, which can be broadly categorized into two types: automatic and controlled decision-making.
Automatic decision-making is fast, intuitive, and relies on gut feelings...
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Decision Making: P-value Method01:09

Decision Making: P-value Method

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The process of hypothesis testing based on the P-value method includes calculating the P- value using the sample data and interpreting it.
First, a specific claim about the population parameter is proposed. The claim is based on the research question and is stated in a simple form. Further, an opposing statement to the claim  is also stated. These statements can act as null and alternative hypotheses:  a null hypothesis would be a neutral statement while the alternative hypothesis can...
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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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Decision Making: Traditional Method01:14

Decision Making: Traditional Method

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The process of hypothesis testing based on the traditional method includes calculating the critical value, testing the value of the test statistic using the sample data, and interpreting these values.
First, a specific claim about the population parameter is decided based on the research question and is stated in a simple form. Further, an opposing statement to this claim is also stated. These statements can act as null and alternative hypotheses, out of which a null hypothesis would be a...
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Updated: Feb 1, 2026

Isolation and Genome Analysis of Single Virions using 'Single Virus Genomics'
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JMML genomics and decisions.

Charlotte M Niemeyer1

  • 1Department of Pediatrics and Adolescent Medicine, University Children's Hospital, University of Freiburg, Freiburg, Germany.

Hematology. American Society of Hematology. Education Program
|December 4, 2018
PubMed
Summary

Juvenile myelomonocytic leukemia (JMML) is a childhood blood disorder driven by RAS pathway gene mutations. Genetic subtypes influence treatment and prognosis, with some cases showing spontaneous remission.

Area of Science:

  • Pediatric Hematology
  • Oncology
  • Cancer Genetics

Background:

  • Juvenile myelomonocytic leukemia (JMML) is a rare childhood blood cancer.
  • It is characterized by RAS signal transduction pathway hyperactivation.
  • Genetic alterations in five key genes (PTPN11, NRAS, KRAS, NF1, CBL) define distinct JMML subtypes.

Purpose of the Study:

  • To elucidate the genetic landscape of JMML.
  • To correlate genetic alterations with clinical features and outcomes.
  • To improve diagnostic and therapeutic strategies for childhood myeloproliferative disorders.

Main Methods:

  • Analysis of molecular alterations in JMML-associated genes.
  • Genomic profiling, including DNA methylation analysis.
  • Clinical data correlation with genetic findings.

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Main Results:

  • Approximately 90% of JMML cases involve mutations in PTPN11, NRAS, KRAS, NF1, or CBL.
  • Distinct genetic subtypes exhibit different clinical behaviors and prognoses.
  • DNA methylation profiles are highly predictive of JMML patient outcomes.
  • Spontaneous remission occurs in some CBL-mutated and NRAS-mutated JMML cases.

Conclusions:

  • JMML is a stem cell disorder driven by specific genetic alterations.
  • Understanding these genetic underpinnings is crucial for accurate diagnosis and treatment.
  • Further research into RAS pathway genetics can guide clinical decision-making for childhood myeloproliferative neoplasms.