Introduction to NGS

Next Generation Sequencing (NGS)

DNA Sequencing process
- Process of determining the order of nucleotides in a genome (genome codes the complete set of instructions for cellular functions)
Next Generation Sequencing (NGS)
- Increasing the throughput by massively parallelising the sequencing process

Sequencing throughput and sequencing cost

Today, we are no longer limited by the availability of sequencing data due to the rapidly decreasing cost

Sequencing cost over the years

Sequencing throughput over the years

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Sequencing tech used in the Human Genome Project

Main steps of DNA sequencing

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NGS data analysis (Germline variant calling)

Main steps in NGS analysis

           graph TD;
      i1(Raw data) --> 1
      i2(Reference data) --> 1
      1(Mapping raw data onto the reference)
      1 -- Alignment file --> 2
      2(Optimization & fine-tuning of the alignment file)
      2 -- Optimised & fine-tuned alignment file --> 3
      3(Identify DNA changes)

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      classDef white fill:#ffffff;
      class 1,2,3, highlight;

Precision genomics

Tailoring disease prevention and treatment based on the person’s genetic makeup
Here, we analyse raw sequencing data and identify changes in DNA that could lead to a diseases

Precision genomics in routine clinical practice

Sequence analysis workflows are routinely used in current clinical setting
However they all (a large majority) use CPUs for the computing power