Phased diploid genome assembly with single-molecule real-time sequencing

Chin, C. S., Peluso, P., Sedlazeck, F. J., Nattestad, M., Concepcion, G. T., Clum, A., Dunn, C., O'Malley, R., Figueroa-Balderas, R., Morales-Cruz, A., Cramer, G. R., Delledonne, M., Luo, C., Ecker, J. R., Cantu, D., Rank, D. R., Schatz, M. C. (December 2016) Phased diploid genome assembly with single-molecule real-time sequencing. Nat Methods, 13 (12). pp. 1050-1054. ISSN 1548-7105 (Electronic)1548-7091 (Linking)

URL: https://www.ncbi.nlm.nih.gov/pubmed/27749838
DOI: 10.1038/nmeth.4035

Abstract

While genome assembly projects have been successful in many haploid and inbred species, the assembly of noninbred or rearranged heterozygous genomes remains a major challenge. To address this challenge, we introduce the open-source FALCON and FALCON-Unzip algorithms (https://github.com/PacificBiosciences/FALCON/) to assemble long-read sequencing data into highly accurate, contiguous, and correctly phased diploid genomes. We generate new reference sequences for heterozygous samples including an F1 hybrid of Arabidopsis thaliana, the widely cultivated Vitis vinifera cv. Cabernet Sauvignon, and the coral fungus Clavicorona pyxidata, samples that have challenged short-read assembly approaches. The FALCON-based assemblies are substantially more contiguous and complete than alternate short- or long-read approaches. The phased diploid assembly enabled the study of haplotype structure and heterozygosities between homologous chromosomes, including the identification of widespread heterozygous structural variation within coding sequences.

Item Type: Paper
Subjects: bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes
Investigative techniques and equipment > assays > whole genome sequencing
CSHL Authors:
Communities: CSHL labs > Schatz lab
Watson School > Publications
Depositing User: Matt Covey
Date: December 2016
Date Deposited: 28 Oct 2016 20:02
Last Modified: 07 Jan 2019 19:42
Related URLs:
URI: http://repository.cshl.edu/id/eprint/33809

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