RT Journal Article
SR Electronic
T1 A reference-quality, fully annotated genome from a Puerto Rican individual
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 2021.06.10.447952
DO 10.1101/2021.06.10.447952
A1 Aleksey V. Zimin
A1 Alaina Shumate
A1 Ida Shinder
A1 Jakob Heinz
A1 Daniela Puiu
A1 Mihaela Pertea
A1 Steven L. Salzberg
YR 2021
UL http://biorxiv.org/content/early/2021/06/11/2021.06.10.447952.1.abstract
AB Until 2019, the human genome was available in only one fully-annotated version, which was the result of 18 years of continuous improvement and revision. Despite dramatic improvements in sequencing technology, no other individual human genome was available as an annotated reference until 2019, when the genome of an Ashkenazi individual 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, PR1 is more complete and more contiguous than either the human reference genome (GRCh38) or the Ashkenazi genome. Annotation revealed 42,217 genes (of which 20,168 are protein-coding), including 107 additional gene copies that are present in PR1 and missing from GRCh38. 180 genes have fewer copies in PR1 than in GRCh38, 13 map only partially, and 3 genes (1 protein-coding) from GRCh38 are entirely missing from PR1.Competing Interest StatementThe authors have declared no competing interest.