A familial, telomere-to-telomere reference for human
Journal
bioRxiv : the preprint server for biology
ISSN: 2692-8205
Titre abrégé: bioRxiv
Pays: United States
ID NLM: 101680187
Informations de publication
Date de publication:
05 Aug 2024
05 Aug 2024
Historique:
medline:
16
8
2024
pubmed:
16
8
2024
entrez:
16
8
2024
Statut:
epublish
Résumé
Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess
Identifiants
pubmed: 39149261
doi: 10.1101/2024.08.05.606142
pmc: PMC11326147
pii:
doi:
Types de publication
Journal Article
Preprint
Langues
eng