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ERA 07 · INFORMATION, LIFE & AI

13 / 19 · 2003 · complete sequence in 2022

The Human Genome Project — reading a reference genome

An international consortium released a reference sequence foundational to genomic medicine and bioinformatics.
human genomegenomicsreference sequence

THE RECORD

What changed

The project completed about 92% of the reference in 2003; the T2T consortium filled major gaps in 2022.

EVIDENCE

What remains

Public sequence data, maps, papers and ELSI records preserve science and ethics.

WHY IT MATTERS

Why it matters

It transformed disease research, but one reference cannot represent all human diversity.

OPEN QUESTION

Where interpretation begins

A finished sequence is not finished precision medicine; privacy, discrimination, consent and representation persist.

SOURCE REGISTER

Read from the evidence

NIH · First complete human genome ↗