Segmental duplications and their variation in a complete human genome.
Journal
Science (New York, N.Y.)
ISSN: 1095-9203
Titre abrégé: Science
Pays: United States
ID NLM: 0404511
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
entrez:
31
3
2022
pubmed:
1
4
2022
medline:
6
4
2022
Statut:
ppublish
Résumé
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) are among the last regions of the human reference genome (GRCh38) to be fully sequenced. Using a complete telomere-to-telomere human genome (T2T-CHM13), we present a comprehensive view of human SD organization. SDs account for nearly one-third of the additional sequence, increasing the genome-wide estimate from 5.4 to 7.0% [218 million base pairs (Mbp)]. An analysis of 268 human genomes shows that 91% of the previously unresolved T2T-CHM13 SD sequence (68.3 Mbp) better represents human copy number variation. Comparing long-read assemblies from human (
Identifiants
pubmed: 35357917
doi: 10.1126/science.abj6965
pmc: PMC8979283
mid: NIHMS1764181
doi:
Substances chimiques
GTPase-Activating Proteins
0
Proto-Oncogene Proteins
0
TBC1D3 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
eabj6965Subventions
Organisme : NIGMS NIH HHS
ID : T32 GM007445
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010973
Pays : United States
Organisme : NHGRI NIH HHS
ID : U41 HG007234
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007234
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG011274
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009190
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Commentaires et corrections
Type : CommentIn
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