Genetics

Why the 100,000 Genomes Project will focus on rare diseases

An ambitious project has been launched that will involve sequencing genomes of 100,000 individuals to improve our understanding of a range of diseases and – hopefully – eventually find new treatments for them.

Genetics

Conspicuous tRNA lookalikes riddle the human genome

Transfer RNAs (tRNAs) are ancient workhorse molecules and part of the cellular process that creates the proteins, critical building blocks of life that keep a cell running smoothly. A new discovery suggests that the number ...

Genetics

Genomic technology enters the mainstream practice of medicine

Clinical genome and exome sequencing (CGES) was once deemed exotic, but is increasingly being used by clinical geneticists and other specialists to diagnose rare, clinically unrecognizable, or puzzling disorders that are ...

Genetics

Refining the language for chromosomes

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

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