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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-07

AUTHORS

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

ABSTRACT

Despite tremendous progress in genome sequencing, the basic goal of producing a phased (haplotype-resolved) genome sequence with end-to-end contiguity for each chromosome at reasonable cost and effort is still unrealized. In this study, we describe an approach to performing de novo genome assembly and experimental phasing by integrating the data from Illumina short-read sequencing, 10X Genomics linked-read sequencing, and BioNano Genomics genome mapping to yield a high-quality, phased, de novo assembled human genome. More... »

PAGES

587-590

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/nmeth.3865

DOI

http://dx.doi.org/10.1038/nmeth.3865

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029741262

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27159086


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JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/nmeth.3865'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/nmeth.3865'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/nmeth.3865'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/nmeth.3865'


 

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