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Assembling large genomes with single-molecule sequencing and locality-sensitive hashing

Open access
Berlin, Konstantin, Koren, Sergey, Chin, Chen-Shan, Drake, James P, Landolin, Jane M, Phillippy, Adam M·2015·Nature Biotechnology

Abstract

Long-read, single-molecule real-time (SMRT) sequencing is routinely used to finish microbial genomes, but available assembly methods have not scaled well to larger genomes. We introduce the MinHash Alignment Process (MHAP) for overlapping noisy, long reads using probabilistic, locality-sensitive hashing. Integrating MHAP with the Celera Assembler enabled reference-grade de novo assemblies of Saccharomyces cerevisiae, Arabidopsis thaliana, Drosophila melanogaster and a human hydatidiform mole cell line (CHM1) from SMRT sequencing. The resulting assemblies are highly continuous, include fully resolved chromosome arms and close persistent gaps in these reference genomes. Our assembly of D. melanogaster revealed previously unknown heterochromatic and telomeric transition sequences, and we assembled low-complexity sequences from CHM1 that fill gaps in the human GRCh38 reference. Using MHAP and the Celera Assembler, single-molecule sequencing can produce de novo near-complete eukaryotic assemblies that are 99.99% accurate when compared with available reference genomes.

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Metadata

Authors
Berlin, K., Koren, S., Chin, C.-S., Drake, J. P., Landolin, J. M., & Phillippy, A. M.
Venue
Nature Biotechnology
Published
2015-05-25
Volume
33
Issue
6
Pages
623-630
ISSN
  • 0733-222X (ISSN-L)
  • 1087-0156
  • 1546-1696
OpenAlex
W1579534339
Cited by
934
References
8
FWCI
52.75
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. https://app.cochat.ai/papers/10.1038/nbt.3238
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Berlin, K., Koren, S., Chin, C.-S., Drake, J. P., Landolin, J. M., & Phillippy, A. M. (2015). Assembling large genomes with single-molecule sequencing and locality-sensitive hashing. Nature Biotechnology. https://doi.org/10.1038/nbt.3238

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