Edinburgh Genomics

Short Read Sequencing

Edinburgh Genomics delivers high-throughput, next generation short read sequencing data from with Illumina technologies.


Illumina NovaSeq 6000 and MiSeq

Illumina sequencing produces data at rates orders of magnitude faster than Sanger sequencing, but generates shorter sequences (50 to 300 bases each). Millions to billions of DNA molecules are covalently attached to the surface of a treated glass flowcell, and each individual molecule is amplified in situ to generate a "cluster" that contains about 1000 copies. Sequences are read from newly synthesised DNA copied from these targets by incorporation of fluorescently-tagged nucleotide analogues, illumination with a laser and optical capture of signal from all the amplified clusters simultaneously. Edinburgh Genomics offers the low (MiSeq) and very high (NovaSeq 6000) technologies. 

The NovaSeq 6000 is capable of generating many tens of gigabases per day. These data can be...

  •     assembled de novo to predict the sequence of a new genome or transcriptome
  •     aligned to a reference genome to identify single nucleotide or insertion-deletion polymorphisms
  •     used to count the abundance of species in a DNA mix. The mixes can be the 3' ends of transcripts, small RNAs such as microRNAs or DNA fragments generated by chromatin immunoprecipitation (ChIP) experiments.

We can multiplex many samples per run, so whether you want a "small" number of short reads or hundreds of gigabases, we can deliver.


Our sequencing instrumentation is very versatile: if the sample is nucleic acid, we can transform it to a sequencable library. Data generated by Edinburgh Genomics have been applied to questions in a wide range of fields:

 | Genome assembly | SNP discovery | CNV mapping | Genome rearrangements | Genome architecture | Epigenetic modification | Genetic mapping | Quantitative trait genetics | Population genetics | Metagenomics | Metagenetics | Mutation screening | Synthetic biology | Transcriptome assembly | Gene expression | Transcriptional regulation | Phenotyping of mutants | Pathogen discovery | Evolutionary genomics | Host-pathogen interaction | Ecotoxicogenomics |

The Illumina instruments are suited to a wide range of approaches, including:


  •     De novo genome sequencing
  •     Genome resequencing
  •     Targeted resequencing
  •     Exome sequencing
  •     Amplicon sequencing
  •     ChIP sequencing (and variants, including 5C)
  •     Methylome sequencing


  •     Stranded RNA sequencing
  •     Single Cell RNA sequencing
  •     Small RNA sequencing
  •     Total RNA sequencing


See also the long read sequencing page for Oxford nanopore and PacBio based sequencing

Long Read Sequencing