We present haplotype-resolved reference genomes and comparative analyses of six ape species, namely: chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang. We achieve chromosome-level contiguity with unparalleled sequence accuracy (<1 error in 500,000 base pairs), completely sequencing 215 gapless chromosomes telomere-to-telomere. We resolve challenging regions, such as the major histocompatibility complex and immunoglobulin loci, providing more in-depth evolutionary insights. Comparative analyses, including human, allow us to investigate the evolution and diversity of regions previously uncharacterized or incompletely studied without bias from mapping to the human reference. This includes newly minted gene families within lineage-specific segmental duplications, centromeric DNA, acrocentric chromosomes, and subterminal heterochromatin. This resource should serve as a definitive baseline for all future evolutionary studies of humans and our closest living ape relatives.
### Competing Interest Statement
E.E.E. is a scientific advisory board (SAB) member of Variant Bio, Inc. C.T.W. is a co-founder/CSO of Clareo Biosciences, Inc. W.L. is a co-founder/CIO of Clareo Biosciences, Inc. The other authors declare no competing interests.
* AQER
: ancestor quickly evolved region
cDNA
: complementary deoxyribonucleic acid
CDR
: centromere dip region
CRE
: cis-regulatory element
DJ
: distal junction [region]
ENC
: evolutionary neocentromere
ERV
: endogenous retrovirus
FLNC
: full-length non-chimeric
GGO
: gorilla
HAQER
: human ancestor quickly evolved region [human branch]
HAS
: human
HiFi
: high-fidelity
HOR
: higher-order repeat
ILS
: incomplete lineage sorting
LINE
: long interspersed nuclear element
LTR
: long terminal repeats
MEI
: mobile element insertion
MHC
: major histocompatibility complex
mya
: million years ago
ncRNA
: noncoding RNA
Ne
: effective population sizes
NHP
: nonhuman primate
NOR
: nucleolar organizer region
NUMT
: nuclear sequence of mitochondrial DNA origin
ONT
: Oxford Nanopore Technologies
ORF
: open reading frame
PAB
: Sumatran orangutan
PacBio
: Pacific Biosciences Inc.
PGGB
: pangenome graph builder
PLE
: Penelope-Like Retroelements
PPA
: bonobo
PPY
: Bornean orangutan
PTR
: chimpanzee
PWS
: Prader-Willi syndrome
RC
: rolling circle repeats
rDNA/rRNA
: ribosomal deoxyribonucleic/ribonucleic acid
SD
: segmental duplication
SDR
: structurally divergent region
SF
: suprachromosomal family
SINE
: short interspersed nuclear element
SNV
: single-nucleotide variant
SVA
: SINE-VNTR-Alu element
T2T
: telomere-to-telomere
TE
: transposable element
TOGA
: Tool to infer Orthologs from Genome Alignments
UL
: ultra-long
VNTR
: variable number tandem repeat
The Telomere-to-telomere consortium’s primate project. We now have complete, diploid genomes of six ape species (chimpanzee, bonobo, gorilla, Bornean orangutan, Sumatran orangutan, and siamang). Maybe this will show up on Nature or somewhere next year :D
Manuscript is literally just out on biorxiv.org past Saturday… So title/details subject to change, and unfortunately there are no fancy news articles making it any easier to read