ProgramGenomes & identity
Human Genome Reference Program (HGRP)
NHGRI explains efforts to improve human reference genomes.
Resource
What this contributes
NIST provides genome benchmarks and materials for evaluating sequencing accuracy.
The boundary of the evidence
Performance varies by region, variant class and reference version.
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
A draft human pangenome reference
Introduces a diverse draft pangenome and compares variant detection with a single reference.
2023
Primary studyGenomes & identity
The complete sequence of a human genome
Reports the T2T consortium's gapless human reference sequence.
2022