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RNA-seq

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...

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Updated: May 5, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

SeraSeq reference materials support non-invasive cfDNA screening methods.

Sylvie Giroux¹, Seyedeh Saideh Daryabari¹, André Caron¹

¹Axe SPPOS, Centre de recherche du CHU de Québec-Université Laval, 10 rue de l'Espinay, Québec City, QC, Canada.

Clinical Biochemistry

|November 13, 2025

Summary

This summary is machine-generated.

Seraseq reference materials effectively mimic maternal plasma cell-free DNA (cfDNA) for non-invasive prenatal testing (NIPT). These standards demonstrate reliable performance in detecting aneuploidies, making them suitable for NIPT workflow validation.

Keywords:

Reference materials Screening Seraseq cfDNA

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Area of Science:

Genomics
Molecular Diagnostics
Biotechnology

Background:

Reference materials are crucial for validating clinical assays like non-invasive prenatal testing (NIPT).
Seracare developed Seraseq, commercial reference standards simulating maternal plasma with cell-free DNA (cfDNA).

Purpose of the Study:

Evaluate Seraseq reference materials against natural maternal plasma for NIPT.
Assess the quality and reliability of Seraseq standards in NIPT workflows, with and without size selection.

Main Methods:

Analyzed eight Seraseq genotypes, comparing cfDNA yield, integrity, and library preparation efficiency to natural plasma.
Sequenced libraries and assessed fetal fraction estimation and detection of chromosomal abnormalities.
Investigated the impact of size selection on fetal fraction enrichment and Z-scores for aneuploidy detection.

Main Results:

Seraseq cfDNA quantity and quality were comparable to natural plasma, yielding consistent library concentrations.
Reliable detection of targeted aneuploidies was observed, though microdeletion del22q11 was missed.
Size selection enhanced fetal fraction and improved aneuploidy detection Z-scores, despite slight fragment size profile deviations.

Conclusions:

Seraseq reference materials closely mimic maternal plasma cfDNA and perform reliably in NIPT.
Minor fragment size differences did not impact analytical performance, confirming suitability for NIPT validation.
These standards are appropriate for validating and monitoring non-invasive prenatal testing workflows.