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Study reveals the diversity of non-pathogenic E. coli strains

A study, recently published in Nature Communications, has uncovered the vast diversity between non-diarrheagenic Escherichia coli strains. The work highlights […]

Pathogenic BRCA1 Variant Traced Back to Remote Scottish Islands

A recent study, published in the European Journal of Human Genetics, traced a pathogenic variant in the BRCA1 gene to […]

Many pathogenic genetic variants carry low risk of disease

The team behind a new study has found that many pathogenic genetic variants have a low risk of causing disease. […]

Rare pathogenic gene variants increase risk of fatal chemotherapy toxicity

In a recent study, researchers have shown the impact that certain pathogenic gene variants can have on the risk of […]

Novel statistical test for interpreting pathogenicity of rare variants

Researchers have developed a novel statistical test to interpret the pathogenicity of rare variants and accurately distinguish between benign and […]

BRCA2 c.9227G>T variant found to be pathogenic

Recent analysis published in Scientific Reports has concluded that c.9227G>T is a BRCA2 pathogenic variant. Variants of uncertain significance The […]

Digestive tract organs: a pathogenic route for SARS-CoV-2 infection

A recent article published in Cell Death Discovery has explored digestive symptoms of COVID-19 and the potentially pathogenic route of […]

Enhancing variant interpretation: Obtaining answers from a vast universe of data 

Pinpointing pathogenic mutations from large, complex datasets can be difficult, time consuming and somewhat overwhelming. So, how can you best streamline your genomic analysis, to make it quicker, easier and more efficient? In this webinar, we will demonstrate how variant interpretation software can improve the accuracy and speed of variant interpretation, using specific case studies, such as detecting compound heterozygous variants in Charcot-Marie-Tooth Disease, and Alu insertions in breast cancer.  
In these early stages of progress, clear and informative dialogue between experts in the field is vital. No one has the time to read all the papers and preprints necessary to truly ‘stay ahead’. Therefore, a tailored webinar series such as this is the perfect opportunity to learn on the go. 

So, please join us for our next Multi-Omics ONLINE webinar series. This webinar series is a 3-part exploration of some of the most promising developments in multi-omics happening right now.

Sickle Cell Disease: A 2024 Update

Over the last few months, including just in the last week, there have been multiple reports on new treatments for […]

Week in Brief: Week Ending 5th July

Happy Monday everyone, and welcome back to Week in Brief, your stop for all the latest genomics news! Blood disorders […]