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Human Research

At Edinburgh Genetics, our Next-Generation Sequencing (NGS) services are at the forefront of human genomic research, offering unparalleled insights into the complex architecture of the human genome.

Our state-of-the-art NGS capabilities enable us to support a wide array of research applications, from understanding genetic predispositions to diseases to uncovering the molecular mechanisms underlying human physiology. 

Whole Genome Sequencing (WGS)

Whole Genome Sequencing offers a comprehensive overview of an individual's complete genetic makeup. This technique is pivotal in identifying genetic variations across the entire genome, including single nucleotide polymorphisms (SNPs), insertions, deletions, and structural variants. WGS is invaluable for comprehensive genetic research, disease association studies, and population genetics. By utilising advanced sequencing platforms, we deliver high-resolution, comprehensive genomic data, facilitating a deeper understanding of genetic contributions to human health and disease.


Whole Exome Sequencing (WES)

Focusing on the exome, or the coding regions of the genome, Whole Exome Sequencing is a cost-effective approach for identifying genetic variants that alter protein functions, thereby influencing disease phenotypes. WES is particularly useful for uncovering the genetic basis of rare diseases, characterising mutations in cancer, and pharmacogenomics. Our WES services utilise targeted enrichment strategies to capture the exonic regions, providing a focused yet powerful lens through which to examine genetic variation.


Targeted Sequencing

Targeted Sequencing allows for the precise investigation of specific regions of interest within the genome, making it an efficient tool for validating findings from broader studies or exploring known genetic markers. Ideal for genetic screening, disease research, and personalised medicine, our amplicon and hybrid capture targeted sequencing services offer high sensitivity and specificity for detecting variants within predefined genomic locales. Leveraging custom multiplex-PCR and capture kits, we ensure high-quality data for even the most challenging genomic targets.


RNA Sequencing (RNA-Seq)

RNA Sequencing reveals the dynamic landscape of the transcriptome, providing insights into gene expression patterns, splicing variants, and post-transcriptional modifications. This technique is instrumental in understanding the functional outcomes of genetic variations, elucidating disease mechanisms, and identifying novel transcripts. Our RNA-Seq service employs cutting-edge library preparation and sequencing technologies, enabling comprehensive profiling of the transcriptome in health and disease.


Small RNA Sequencing (sRNA-Seq)

Small RNA Sequencing specialises in profiling small non-coding RNAs, such as microRNAs (miRNAs) and small interfering RNAs (siRNAs), which play crucial roles in gene regulation, development, and pathogenesis. sRNA-Seq is essential for biomarker discovery, understanding regulatory networks, and studying the roles of small RNAs in diseases. Our sRNA-Seq service offers unparalleled sensitivity and precision, capturing the complexity of the small RNA transcriptome with exceptional detail.

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Working collaboratively with our customers, our genomic experts customise NGS panels, laboratory workflows and analysis pipelines to meet individual demand and needs.


Get in touch with us for an initial consultation to discuss your project and what we can offer.

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