ProgramGenomes & identity
Human Genome Reference Program (HGRP)
NHGRI explains efforts to improve human reference genomes.
Resource
What this contributes
Reports the T2T consortium's gapless human reference sequence.
The boundary of the evidence
Not a complete account of every person's genetic variation.
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
Reference resourceGenomes & identity
Genome in a Bottle
NIST provides genome benchmarks and materials for evaluating sequencing accuracy.
Resource