ArticleGenetics2022
A reference-quality, fully annotated genome from a Puerto Rican individual.
Article in Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 30 citations in OpenAlex.
- Combining DNA and protein alignments to improve genome annotation with LiftOn.Genome research · 2025Article
- ntRoot: computational inference of human ancestry at scale from genomic data.Bioinformatics advances · 2025Article
- A reference quality, fully annotated diploid genome from a Saudi individual.Scientific data · 2024Article
- Upstream open reading frames may contain hundreds of novel human exons.PLoS computational biology · 2024Article
- Dynamic formation of the protein-lipid prefusion complex.Biophysical journal · 2024Article
- Combining DNA and protein alignments to improve genome annotation with LiftOn.bioRxiv : the preprint server for biology · 2024Article
- Dynamic Formation of the Protein-Lipid Pre-fusion Complex.bioRxiv : the preprint server for biology · 2024Article
- Upstream open reading frames may contain hundreds of novel human exons.bioRxiv : the preprint server for biology · 2024Article
- Proteometabolomics of initial and recurrent glioblastoma highlights an increased immune cell signature with altered lipid metabolism.Neuro-oncology · 2024Article
- Efficient genome monomer higher-order structure annotation and identification using the GRMhor algorithm.Bioinformatics advances · 2024Article
- The status of the human gene catalogue.ArXiv · 2023Article
- The first gapless, reference-quality, fully annotated genome from a Southern Han Chinese individual.G3 (Bethesda, Md.) · 2023Article
- KOREF_S1: phased, parental trio-binned Korean reference genome using long reads and Hi-C sequencing methods.GigaScience · 2022Article
- The SAMBA tool uses long reads to improve the contiguity of genome assemblies.PLoS computational biology · 2022Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Until 2019, the human genome was available in only one fully annotated version, GRCh38, which was the result of 18 years of continuous improvement and revision. Despite dramatic improvements in sequencing technology, no other genome was available as an annotated reference until 2019, when the genome of an Ashkenazi individual, Ash1, was released. In this study, we describe the assembly and annotation of a second individual genome, from a Puerto Rican individual whose DNA was collected as part of the Human Pangenome project. The new genome, called PR1, is the first true reference genome created from an individual of African descent. Due to recent improvements in both sequencing and assembly technology, and particularly to the use of the recently completed CHM13 human genome as a guide to assembly, PR1 is more complete and more contiguous than either GRCh38 or Ash1. Annotation revealed 37,755 genes (of which 19,999 are protein coding), including 12 additional gene copies that are present in PR1 and missing from CHM13. Fifty-seven genes have fewer copies in PR1 than in CHM13, 9 map only partially, and 3 genes (all noncoding) from CHM13 are entirely missing from PR1.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.