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Next-generation Sequencing

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 Sequencing

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...

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Related Experiment Video

Updated: May 12, 2026

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

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

Published on: August 17, 2022

Noninvasive fetal genome sequencing: a primer.

Matthew W Snyder¹, LaVone E Simmons, Jacob O Kitzman

¹Department of Genome Sciences, University of Washington, Seattle, WA, USA.

Prenatal Diagnosis

|April 5, 2013

Summary

Noninvasive fetal whole genome sequencing is now possible using maternal plasma and parental DNA. This method provides a highly accurate fetal genetic profile, including inherited and de novo variations, from early pregnancy samples.

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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Last Updated: May 12, 2026

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

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Published on: August 17, 2022

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Area of Science:

Genetics
Genomics
Prenatal Diagnostics

Background:

Noninvasive prenatal testing (NIPT) currently focuses on aneuploidy detection.
Whole genome sequencing (WGS) offers a more comprehensive fetal genetic analysis.
Previous work established the feasibility of noninvasive fetal WGS from maternal plasma and parental DNA.

Purpose of the Study:

To review the clinical potential of noninvasive fetal whole genome sequencing (NIF-WGS).
To outline the scientific methodology behind NIF-WGS.
To identify opportunities and challenges for clinical implementation.

Main Methods:

Utilized maternal plasma and parental DNA samples.
Performed whole genome sequencing on collected samples.
Analyzed sequencing data to generate a fetal genetic profile.

Main Results:

Demonstrated the ability to obtain a substantially complete fetal genetic profile noninvasively.
Achieved high accuracy in identifying both inherited and de novo genetic variations.
Proof-of-concept established for first and second-trimester samples.

Conclusions:

Noninvasive fetal whole genome sequencing is a promising advancement in prenatal genetic diagnostics.
Clinical adoption requires addressing specific opportunities and challenges.
This technology has the potential to significantly enhance prenatal genetic screening and diagnosis.