ProgramGenomes & identity
Human Genome Reference Program (HGRP)
NHGRI explains efforts to improve human reference genomes.
Resource
Research field / 01
Genomes & identity
Read the sequence. Understand its limits.
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.
Questions that matter
- Which sample types and sequencing methods meet a defined quality target?
- What raw data, reference versions and quality reports must travel with the sequence?
- How will reanalysis and access work after the original provider is gone?
Sources & resources
Read our evidence note, then follow the original source.
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
Reference resourceGenomes & identity
Genome in a Bottle
NIST provides genome benchmarks and materials for evaluating sequencing accuracy.
Resource