Updates on key developments in genomics

Microscopic view of multiple chromosomes.

Sequencing the Y chromosome - five things we now know

After years of research, a fully annotated sequence of the human Y chromosome has been published. We celebrate this breakthrough with a few key facts

Children at centre of new genomics health research programme

New genomic bioresource D-CYPHR seeks to decode the DNA at the heart of childhood disease
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The role of genes in susceptibility to skin cancer

The UK is no sun-drenched paradise, but skin cancer is common among the population. As summer ends, we consider new research that may offer an explanation as to why
An series of icons, each in an individual hexagon an drepresenting different aspects of genomics research overlay an out-of-focus photo of a white male scientist looking at a test tube that he is holding up

Whole genome sequencing: Seven uses in health and research

In part two of our blog series, we look at the many UK initiatives that are taking advantage of the power and precision of whole genome sequencing

Whole genome sequencing for diagnosis of infants

In the first of a two-part series about whole genome sequencing, we look at how this technology is being used to diagnose newborns in the NHS

DNA clues discovered for asymptomatic and long Covid conditions

The HLA-B and FOXP4 DNA regions may be the link between Covid-19 symptom severity and our genome, according to two papers

What's in a little variation?

Genomic variation is the root of many of our traits, including what we look like and our susceptibility to many diseases. But what is it?
A strand of stylised blue DNA on a plain background with a magnifying glass focusing on a section of the DNA strand

How has whole genome sequencing transformed the investigation of rare disease?

The way in which rare diseases are investigated has been opened up by whole genome sequencing. We look at its impact on both clinicians and patients

Polygenic scores show promise for improved prostate cancer detection

Three in ten men would have been spared an invasive prostate cancer-confirming biopsy if their own genomic data were considered, say Stanford University researchers

First results returned from NHS cancer blood test 

Two in three patients with suspected cancer symptoms could receive an early diagnosis from a new blood test
A baby's fist closed around the finger of an adult.

Hidden genomics in health visiting

In this feature article for the 2023 #GenomicsConversation week, we explore the vital role that health visitors play in unlocking the potential of genomics for patients
Illustrated magnifying glass on striped background, with DNA double helices visible under the magnifying glass.

Can you spot the hidden genomics?

We've put together eight short healthcare scenarios where genomics may play a part. See if you can work it out, and click to reveal if you're right
Two illustrated health professionals in conversation

Experts through experience: Arti’s story

In today’s #GenomicsConversation blog post, we share Arti’s story of pursuing genomic testing and finding answers about her condition
Illustrated image of two health professionals in conversation

Experts through experience: Jo’s story

As part of this year’s #GenomicsConversation, patient advocate Jo shares her breast cancer journey, which began before the NHS Genomic Medicine Service was set up
Illustrated image of two health professionals in conversation

Experts through experience: Dave’s story

As part of this year’s #GenomicsConversation, we spoke to 100,000 Genomes Project participant Dave about his first-hand experiences of genomic testing in the NHS
illustrated image of two health professionals in conversation

Experts through experience: Becky’s story

Today, as part of our #GenomicsConversation week, we hear from Becky about her daughter’s complex condition, which remains undiagnosed even after genomic testing
Health professionals questioning each other

The professional view: Kate’s story

As part of #GenomicsConversation week, Professor Kate Tatton-Brown shares her personal experience of the genomic testing process and how it feels for a health professional to be a patient
shelves in a pharmacy with a selection of prescription drugs

Pharmacogenomics: The future of preventing adverse drug reactions

In the second part of our pharmacogenomics blog series, we look at how new research could lead to a more effective application of drugs

Point-of-care genomic testing suggested for stroke patients

NHS stroke patients would benefit from a one-hour genomic test, given at the point of care, to see if clopidogrel should be given, a NICE draft report suggests
A baby's fist closed around the finger of an adult.

All about mitochondria: Donation and developing treatments

In the second part of our mitochondria blog series, we look at mitochondrial donation, how it works and the impact it could have for families
Render of a DNA helix

Genomic sequencing: A decade to a day

Curiosity, patience, and the humble pea plant are three fundamental factors that have allowed us to sequence an entire human genome in 24 hours