Primary studyGenomes & identity
A draft human pangenome reference
Introduces a diverse draft pangenome and compares variant detection with a single reference.
2023
What this contributes
NHGRI explains efforts to improve human reference genomes.
The boundary of the evidence
A reference is not an individual's complete genome.
Why it belongs here
Sequencing can preserve a record of a person's DNA. The questions are completeness, accuracy, provenance and future interpretability. A genetic sequence is one part of a life; it does not contain a recording of lived experience.
Keep reading
Primary studyGenomes & identity
The complete sequence of a human genome
Reports the T2T consortium's gapless human reference sequence.
2022
Reference resourceGenomes & identity
Genome in a Bottle
NIST provides genome benchmarks and materials for evaluating sequencing accuracy.
Resource