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Search results for: Genetic Variants

Webinar: Capture the dark genome – From repeat-expansions to CRISPR unintended mutations

Sequenced genomes retain a surprisingly large number of “dark” regions – sections that have proven difficult to characterise via short-read […]

Base editing outcomes predicted by machine learning model

Single nucleotide variants (SNVs) are implicated in about half of all genetic diseases and so, accurately targeting and editing these […]

Data shows incidental findings most frequent in cancer risk genes

A study using Electronic Medical Records and Genomics Network have tracked the frequency and type of secondary or incidental findings […]

A look inside a rapid exome sequencing lab

The ability to sequence a patient’s genome can be an invaluable tool in healthcare, especially as we move towards more […]

Inherited genes found to drive cancer metastasis

Metastasis occurs when the cancer cells escape the original tissue and establish new tissue elsewhere. Most cancer deaths are caused […]

Research shows gene associated with dementia doubles risk of severe COVID-19 symptoms

A study published this morning has revealed that having two copies of the e4 variant of the ApoE gene doubles […]

Study finds host factors influence COVID-19 clinical outcome more than viral variation

A recent study has found that host factors seem to influence the disease outcomes in COVID-19 patients more than viral […]

Researchers have rapidly reconstructed the SARS-CoV-2 virus using synthetic genomics

Swiss and German researchers have developed a yeast-based synthetic genomics platform that can rapidly reconstruct diverse RNA viruses, including SARS-CoV-2, […]

Genomics against COVID-19: A summary

Last week, we asked the genomics community how they were shifting their focus to help fight the novel coronavirus. We […]

Gene therapy: The what, the how and the ethics

What is gene therapy? Given the hype around gene therapy and the recent approvals for use, everyone has heard or […]