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Key genomic technologies of 2020: treatments old and new
In the second part of our review of the year’s genomic highlights, we look at the breakthroughs that are helping patients with rare disease and cancer
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Key genomic technologies of 2020: fighting Covid-19
In the first of two articles reflecting on this year, we look at how genomics became central to tackling an unprecedented global pandemic
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Keeping genes in mind: genomics and mental illness
UCL Genetics Institute honorary professor and psychiatrist David Curtis explains the challenge of understanding mental illnesses like schizophrenia, and how recent advances in genomics could have a real impact on clinical practice
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Genome UK: making the genomic dream a reality
The government has set out its vision for how the UK will harness the power and potential of genomics for the benefit of patients. Here are the top highlights
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Newborn screening: the pros and cons of genome sequencing
Could genome sequencing replace the blood spot test? We review the potential benefits and drawbacks of a more direct approach to screening
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Mitochondrial disease: the genomics challenge
Mitochondrial diseases are overwhelmingly genetic in origin, so why are gene therapies so difficult to develop? We take a deep dive to find out more.
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What is NIPD?
Non-invasive prenatal diagnosis can provide vital information about a pregnancy, but when should the technique be used, and how does it differ from NIPT?
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Rapid exome sequencing: a look inside the lab
Clinical scientist Dr Julia Baptista explains what – and who – is involved when the NHS sequences the DNA from all an individual’s 20,000 protein-coding genes
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10 things to consider when offering a genomic test
Guest author Professor Frances Flinter explains 10 of the most important considerations for professionals and patients
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Book review: My DNA Diary: Sickle Cell Anaemia
In her latest book Lisa Mullan explains the genetic basis of sickle cell disease in an entertaining way for older children and adults
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Genomics in nursing: making a difference to patients
As part of this year’s #GenomicsConversation, guest author Leanne LeRiche shares her family’s experience of genomic testing, and the vital role that nurses play
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What is whole exome sequencing?
Following the recent NHS announcement that WES will be used for critically ill babies and children, we explore what it is and the benefits it could bring