Data analysis

Variant Analysis

Whole-Genome Sequencing (WGS) is a process that determines the complete DNA sequence of an organism’s genome. Exome sequencing is a technique to selectively sequence the coding regions of the genome. These types of sequencing are most commonly used in projects aimed at detecting the presence of SNPs, InDels and structural variants related to disease-causing protein structural and functional changes.


RNA-Seq enables the profiling of the entire transcriptome in any organism. This type of sequencing is commonly used in projects that aim to either quantify the levels of gene expression, detect differential expression or detect alternative splicing in a sample. RNA-Seq can be performed either on bulk samples or on single cells.


ChIP-Seq combines chromatin immunoprecipitation (ChIP) with sequencing to identify the binding sites of DNA-associated proteins (e.g. transcription factors) and histone modifications genome-wide.



Micro-RNA (miRNA) profiling and discovery is a popular field in the biological research community as these short nucleotide sequences play an important role in gene regulation.


ATAC-Seq is a relatively new technique that enables the study of chromatin accessibility using a faster approach than DNAse-Seq. It aims to identify DNaseI hypersensitive sites (i.e. all DNA-accessible regions) to determine DNA-binding proteins’ “footprints” and to infer nucleosome positions. ATAC-Seq can be performed either on bulk samples or on single cells.


Microarray technologies remain a popular alternative to sequencing in many situations and gene expression (including exon arrays), methylation and SNP genotyping arrays are offered by the Oxford Genomics Centre.