Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads.
Journal
Nature biotechnology
ISSN: 1546-1696
Titre abrégé: Nat Biotechnol
Pays: United States
ID NLM: 9604648
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
22
11
2019
accepted:
16
09
2020
pubmed:
9
12
2020
medline:
15
4
2021
entrez:
8
12
2020
Statut:
ppublish
Résumé
Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding capabilities of single-cell strand sequencing
Identifiants
pubmed: 33288906
doi: 10.1038/s41587-020-0719-5
pii: 10.1038/s41587-020-0719-5
pmc: PMC7954704
mid: NIHMS1663376
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
302-308Subventions
Organisme : NHGRI NIH HHS
ID : R01 HG002898
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010169
Pays : United States
Organisme : NHGRI NIH HHS
ID : T32 HG008345
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010971
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG010485
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG007497
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG002385
Pays : United States
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA034196
Pays : United States
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