Next Gen Sequencing Notes

Flashcards covering key concepts related to Next Generation Sequencing technology.

What are the common platforms used in High-throughput sequencing (HTS)?

Illumina, Ion Torrent, Pacific Biosciences, and Oxford Nanopore Technologies.

What does NGS stand for?

Next Generation Sequencing.

What is a typical output of Next Generation Sequencing in terms of parallel sequencing?

NGS performs sequencing of millions of small fragments of DNA in parallel.

What is the purpose of bioinformatics in NGS?

To piece together DNA fragments by mapping individual reads to a reference genome.

What characterizes second generation sequencing methods?

Clonal amplification of DNA libraries and sequencing by synthesis.

What are the advantages of Illumina sequencing?

Low cost per GB and high output.

How does nanopore sequencing work?

It detects the electronic signal produced by each DNA base as it passes through a nanopore.

What is sequencing depth?

It refers to the average number of reads that align to each position in the genome.

What is the significance of high sequencing coverage?

Increases the accuracy and sensitivity of variant detection.

What does PCR stand for and what is its role in NGS workflows?

Polymerase Chain Reaction; it is used for amplifying DNA during library preparation.