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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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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...
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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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How genomics is changing the practice of prenatal testing.

Isabel Filges1, Peter Miny2, Wolfgang Holzgreve3

  • 1Institut für Medizinische Genetik und Pathologie and Departement Klinische Forschung, Universitätsspital Basel, Basel, Switzerland.

Journal of Perinatal Medicine
|July 2, 2021
PubMed
Summary

New genomic technologies like high throughput sequencing (HTS) and chromosomal microarrays (CMA) enhance prenatal diagnosis. Informed decision-making remains complex due to the rapid advancement of these genetic testing options.

Keywords:
NIPSNIPTgenomicsprenatal diagnosisprenatal screening

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Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Genomic Medicine

Background:

  • Genomic laboratory technologies, including microarrays and high throughput sequencing (HTS), have fundamentally changed prenatal diagnosis.
  • Advances in sonography have improved fetal phenotype assessment, while non-invasive prenatal testing (NIPT) reliably identifies pregnancies at high risk for common trisomies.

Purpose of the Study:

  • To provide an overview of current practices and policies in prenatal diagnosis in Switzerland.
  • To discuss the impact of new genomic testing options on clinical practice and decision-making.

Main Methods:

  • Review of current genomic laboratory technologies (microarrays, HTS, NIPT, CMA, WES).
  • Analysis of advancements in sonographic imaging and processing.
  • Discussion of screening and diagnostic options for prenatal conditions.

Main Results:

  • HTS enables preconceptional comprehensive carrier screening.
  • Chromosomal microarrays (CMA) offer enhanced resolution for detecting chromosomal anomalies and copy number variations (CNV).
  • Gene panel or whole exome sequencing (WES) is increasingly used for follow-up of ultrasound-detected anomalies after CNV exclusion.

Conclusions:

  • Invasive testing remains necessary for definitive fetal diagnosis for most conditions.
  • The complexity of new genomic testing options presents challenges for informed decision-making.
  • Effective communication of benefits and limitations is crucial for patients navigating prenatal genetic testing.