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Glossary

Exome

The portion of a genome that codes for RNA and protein production.



Articles using this Glossary Item

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Gene linked to depression, and largest genetic study launched

10 April 2017 - by Sarah Gregory

Researchers have identified a gene variant that increases the risk of depression, while elsewhere the largest genetic study testing for risk factors gets underway... [Read More]

GIANT makes short work of height gene discovery

20 February 2017 - by Professor Darren Griffin

A recent large-scale study that discovered 83 rare genes related to human height reveals the power of so-called genome-wide association studies... [Read More]

Exome project reveals 3230 disease genes

22 August 2016 - by Dr Barbara Kramarz

More than 3230 genes with the propensity to cause disease have been identified in an analysis of the largest exome dataset yet... [Read More]

No benefit from expanding cancer-risk gene test beyond the essentials

09 May 2016 - by Rachel Siden

Adding more genes to existing multi-gene panels that test for breast and ovarian cancer risk offers little clinical benefit, a study says... [Read More]

Genetics company launches huge open-access database

14 March 2016 - by Isobel Steer

Genetic-testing company Ambry Genetics has launched a huge database of cancer-patient genetics, freely available to the public... [Read More]

Genetic test detects 'all known inherited heart conditions'

22 February 2016 - by Dr Ashley Cartwright

A new blood test has been developed that can accurately detect all genes known to cause inherited heart conditions, say scientists... [Read More]

Network of human intelligence genes identified

11 January 2016 - by Dr Ashley Cartwright

Scientists from Imperial College London have identified two gene networks that are linked to human intelligence... [Read More]

First insights from UK genome-sharing project

21 September 2015 - by Dr Nicoletta Charolidi

The first findings from the UK10K project, the largest population genome sequencing effort to date, have been made available to worldwide researchers... [Read More]

Combined genetic tests could aid autism diagnosis

07 September 2015 - by Dr Ashley Cartwright

Scientists have found that two genetic analysis techniques can increase the number of causative mutations found in children with autism spectrum disorder... [Read More]

New, single-gene form of obesity and diabetes identified

06 July 2015 - by Paul Waldron

A new form of obesity and type 2 diabetes that is caused by a mutation in a single gene has been discovered... [Read More]

Gene found to double risk of heart attacks.

15 December 2014 - by Dr Molly Godfrey

Scientists have identified a set of rare gene mutations that may increase the risk of early heart attacks... [Read More]

100,000 Genomes: Impacting real lives

18 November 2014 - by Dr Sarah Wynn

The 100,000 Genomes Project aims to sequence 100,000 genomes by 2017. A proportion of these genomes will be from patients who have an undiagnosed rare disease. This project has the potential to make a dramatic impact on the numbers of people receiving a much-needed diagnosis for themselves or their child... [Read More]

Gene mutation carriers get equivalent of lifetime's anti-cholesterol treatment

18 November 2014 - by Dr Lanay Griessner

An inactive copy of a gene associated with cholesterol levels can reduce the risk of a heart attack, according to a study... [Read More]

Seek and ye shall find: the challenge of genome sequencing

10 November 2014 - by Dr Simon Woods

The 100,000 Genomes Project is raising some thorny ethical issues: what kind of feedback should research participants receive, and how?... [Read More]

New genome sequencing recommendation enables patients to opt out of genetic disease testing

07 April 2014 - by Rebecca Carr

The American College of Medical Genetics and Genomics (ACMG) has updated its position on the return of results from genome sequencing to allow patients to opt out from receiving incidental information.... [Read More]

Is full genome analysis of newborns worthwhile? $25 million programme to investigate

09 September 2013 - by Dr James Heather

The US National Institutes of Health has unveiled plans to trial sequencing the DNA of newborn babies, to test if it could improve paediatric medical care... [Read More]

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