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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
Maxam-Gilbert Sequencing01:05

Maxam-Gilbert Sequencing

In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
Challenges of the Maxam-Gilbert Method
The...
Genomics02:02

Genomics

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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Related Experiment Video

Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Prenatal genomic sequencing: Navigating uncertainty.

Médéric Jeanne1, Wendy K Chung1

  • 1Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.

Seminars in Perinatology
|May 22, 2025
PubMed
Summary
This summary is machine-generated.

Prenatal genomic sequencing aids medical decisions for fetal anomalies. Clearer reporting of uncertain results is needed, but will improve with more data.

Keywords:
Congenital anomaliesDecision-makingExome sequencingGenome sequencingPrenatal testingUncertain results

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Related Experiment Videos

Last Updated: May 23, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

  • Genetics
  • Prenatal Diagnosis
  • Medical Genomics

Background:

  • Prenatal genomic sequencing is standard for fetal structural anomalies.
  • It guides medical decisions and management, identifying clinical features for timely treatment.
  • Limited prenatal clinical details increase diagnostic uncertainty and variants of uncertain significance (VUS).

Purpose of the Study:

  • To review current practices and recommendations for reporting VUS in prenatal settings.
  • To explore parental perspectives on reporting uncertain genetic results.
  • To address the lack of clear guidelines for reporting uncertain prenatal findings.

Main Methods:

  • Review of current practices and recommendations for VUS reporting.
  • Inclusion of parental perspectives on reporting uncertain results.
  • Analysis of retrospective and prospective prenatal and postnatal case data.

Main Results:

  • Prenatal genomic sequencing results are crucial for medical decision-making.
  • Limited prenatal data complicates diagnostic certainty, leading to more VUS.
  • There are no clear recommendations for reporting uncertain prenatal genetic results.

Conclusions:

  • Improved prenatal and postnatal case data will enhance diagnostic certainty over time.
  • Increased data access should lead to a lower frequency of VUS.
  • Clearer guidelines are needed for reporting uncertain prenatal genetic findings.