Genomics England: The 100,000 Genomes Project

The human genome contains 3 billion letters. Finding the single typo t

The human genome contains 3 billion letters. Finding the single typo that causes a disease is like finding a needle in a haystack.

Genomics England uses machine learning tools to compare a patient’s DNA against vast databases of healthy and sick individuals to spot these anomalies.

This has led to life-changing diagnoses for children with rare conditi

This has led to life-changing diagnoses for children with rare conditions who had remained undiagnosed for years.

By pinpointing the specific genetic cause, doctors can often prescribe targeted therapies—the essence of ‘Personalized Medicine’.

They are now moving to ‘Whole Genome Sequencing’ as a standard of care

They are now moving to ‘Whole Genome Sequencing’ as a standard of care in the NHS.

The data collected (with consent) forms a research environment where AI can hunt for the genetic roots of everything from dementia to severe COVID response.

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