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Next Generation Sequencing Glossary

Next Generation Sequencing
A high-throughput sequencing method which parallelizes the sequencing process, producing thousands or millions of sequences at once.

Deep Sequencing
Techniques of nucleotide sequence analysis that increase the range, complexity, sensitivity, and accuracy of results by greatly increasing the scale of operations and thus the number of nucleotides, and the number of copies of each nucleotide sequenced.

Paired-End Sequencing
Sequence both ends of the same fragment and keep track of the paired data.

Short oligonucleotides which are attached to the DNA to be sequenced. An adapter can provide a priming site for both amplification and sequencing of the adjoining, unknown nucleic acid.

A collection of DNA fragments with adapters ligated to each end.

Bridge Amplification
Generation of in situ copies of a specific DNA molecule on an oligo-decorated solid support.

Emulsion PCR
A method for bead-based amplification of a library. A single adapter-bound fragment is attached to the surface of a bead, and an oil emulsion containing necessary amplification reagents is formed around the bead/fragment component. Parallel amplification of millions of beads with millions of single strand fragments produces a sequencer-ready library.

Mapping of sequence reads to a known reference sequence

Reference sequence/genome 
A fully assembled version of a genome that can be used for mapping short DNA sequence reads for comparisons of genomes from various individuals

Coverage Depth
The number of nucleotides from reads that are mapped to a given position of reference genome.

The percentage of sequences that map to the intended targets out of total bases per run.

The variability in sequence coverage across target regions.

Uninterrupted stretch of a single nucleotide type (e.g., TTT or GGGGGG)

InDel stands for Insertion or deletion. A form of structural variation in which a DNA segment is either deleted or inserted.


SNP stands for Single Nucleotide Polymorphism. A single base difference found when comparing the same DNA sequence from two different individuals.

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DNAseq Panel Mastermix
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Library Quantification Mastermix