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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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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
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Pharmacogenomics: Identification of New Drug Targets01:29

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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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FISH for Pre-implantation Genetic Diagnosis
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New genetic testing in prenatal diagnosis.

Natalia Babkina1, John M Graham1

  • 1Medical Genetics Institute, Cedars-Sinai Medical Center and Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

Seminars in Fetal & Neonatal Medicine
|December 10, 2013
PubMed
Summary

Prenatal genetic testing helps patients make informed decisions. Chromosomal microarray is recommended for diagnosing congenital anomalies and developmental delays, as next-generation sequencing may miss copy-number variants.

Keywords:
Chromosomal microarrayExome sequencingNext-generation sequencingNon-invasive prenatal screeningPreimplantation genetic testing

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Area of Science:

  • Medical Genetics
  • Prenatal Diagnostics

Background:

  • Prenatal genetic diagnosis is crucial for informed reproductive choices and fetal outcome counseling.
  • Awareness of diverse genetic conditions and appropriate testing is essential for healthcare providers.

Purpose of the Study:

  • To review available genetic testing techniques for prenatal diagnosis.
  • To highlight the utility of chromosomal microarray and limitations of next-generation sequencing.

Main Methods:

  • Review of genetic techniques including preimplantation genetic testing, chromosomal microarray, non-invasive prenatal screening, and next-generation sequencing.
  • Discussion of the diagnostic capabilities and limitations of each method.

Main Results:

  • Chromosomal microarray is the primary diagnostic test for multiple congenital anomalies and developmental delay.
  • Most next-generation sequencing methods do not detect copy-number variants (CNVs).
  • Exome and whole genome sequencing are time-intensive procedures.

Conclusions:

  • Choosing the correct prenatal diagnostic test is vital for accurate genetic diagnosis.
  • Chromosomal microarray is preferred for detecting CNVs in cases of congenital anomalies and developmental delay.
  • Sufficient time must be allocated for time-consuming sequencing methods like exome and whole genome sequencing.