A hybrid approach for de novo human genome sequence assembly and phasing

Yulia Mostovoy; Michal Levy‐Sakin; Jessica Lam; Ernest T. Lam; Alex Hastie; Patrick Marks; Joyce Lee; Catherine Chu; Chin Jia Lin; Željko Džakula; Han Cao; Stephen A. Schlebusch; Kristina Giorda; Michael Schnall-Levin; Jeffrey D. Wall; Pui–Yan Kwok

doi:10.1038/nmeth.3865

Keywords

GenomeHuman genomeSequence assemblyComputational biologyBiologyGenomicsReference genomeGeneticsWhole genome sequencingHybrid genome assemblyENCODESequence (biology)DNA sequencingGene

Affiliated Institutions

Related Publications

Nanopore sequencing and assembly of a human genome with ultra-long reads

Miten Jain , Sergey Koren , Karen H. Miga +23 more

We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer. 91.2 Gb...

2018 Nature Biotechnology 1952 citations

Contiguous and accurate <i>de novo</i> assembly of metazoan genomes with modest long read coverage

Mahul Chakraborty , James G. Baldwin-Brown , Anthony D. Long +1 more

Genome assemblies that are accurate, complete and contiguous are essential for identifying important structural and functional elements of genomes and for identifying genetic va...

2016 Nucleic Acids Research 472 citations

De novo assembly of human genomes with massively parallel short read sequencing

Ruiqiang Li , Hongmei Zhu , Jue Ruan +11 more

Next-generation massively parallel DNA sequencing technologies provide ultrahigh throughput at a substantially lower unit data cost; however, the data are very short read length...

2009 Genome Research 2939 citations

ABySS: A parallel assembler for short read sequence data

Jared T. Simpson , Kim Wong , Shaun D. Jackman +3 more

Widespread adoption of massively parallel deoxyribonucleic acid (DNA) sequencing instruments has prompted the recent development of de novo short read assembly algorithms. A com...

2009 Genome Research 3668 citations

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Aaron M. Wenger , Paul Peluso , William J. Rowell +25 more

The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing ...

2019 Nature Biotechnology 1766 citations

Publication Info

Year: 2016
Type: article
Volume: 13
Issue: 7
Pages: 587-590
Citations: 241
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

A hybrid approach for de novo human genome sequence assembly and phasing

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

241

OpenAlex

Cite This

APA Style

                            
                                
                                    Yulia Mostovoy, 
                                
                                    Michal Levy‐Sakin, 
                                
                                    Jessica Lam
                                
                                et al.
                            
                            (2016). 
                            A hybrid approach for de novo human genome sequence assembly and phasing. 
                            Nature Methods
                            , 13
                            (7)
                            , 587-590.
                            https://doi.org/10.1038/nmeth.3865
                        

Identifiers

DOI: 10.1038/nmeth.3865