Clinical Bioinformatics

About

MOMA analyses a wide range of diagnostic and research samples. This produces large amounts of data and requires a solid IT infrastructure. A highly customized laboratory information system (LIMS), network and server hardware capable of secure handling and computation as well as bioinformatical pipelines for many different purposes are required.


High performance computing (HPC)  and local LIMS team

We have a close collaboration with both GenomeDK at Aarhus University and National Genome Center and are using both HPC facilities as data repositories and computational centers. Data is securely transferred to dedicated servers and automatic data processing is starting up based on the type of samples being sequenced.
The MOMA LIMS team works together with the laboratory staff to develop systems for handling the workflow in the lab and the metadata that follows all samples.


In-house bioinformatic pipelines and quality control

We are constantly developing and improving our in-house bioinformatic pipelines that handle both small panels, exomes, genomes, and RNA samples. The pipelines provide quality metrics of the overall runs and individual samples and present these to the laboratory and variant interpreters (clinical academics). The pipelines calculate DNA changes relative to the human reference, compared to sets of control samples, and in case of somatic cancer material compared to a blood sample from the same patient.
This landscape of differences all together describe the human genetic variation but also allows us to pinpoint individual disease-causing mutations that facilitate a clinical diagnosis of the patient.


Collaboration with research and clinical departments

We work together with several research groups from MOMA and other labs and aid in processing samples and understanding the bioinformatic analysis.
We have collaborations through CONNECT and directly with departments‍

Contact

Søren Vang

Head of Clinical Bioinformatics, PhD, MSc

Internationally Accredited Quality

The department is accredited by DANAK/ILAC by the international laboratory standard DS/EN ISO 15189:2013 for medical examination - genetics.

A complete method list of accredited analyses can be found at DANAK's website.

MOMA participates in several external quality assessment schemes:  European Molecular Genetics Quality Networks (EMQN), Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) and Genomic Quality Assessment (GenQA).

People

Anders Sune Pedersen

Clinical bioinformatician, PhD, MSc

Daniel Thaagaard Andreasen

Clinical bioinformatician, PhD, MSc

Jörn Bethune

Clinical bioinformatician, PhD, MSc

Kenneth Lyneborg Hvam

Clinical bioinformatician, MSc

Louise Bruun Thingholm

Bioinformatician, PhD, MSc

Michael Knudsen

Clinical bioinformatician, PhD, MSc

Morten Flink

Clinical bioinformatician

Philippe Lamy

Assoc. Prof., PhD, engineer

Simon Opstrup Drue

Clinical bioinformatician, MSc

Søren Vang

Head of Clinical Bioinformatics, PhD, MSc

Thomas Damm Als

Clinical bioinformatician, PhD, MSc