Sequence variants from whole genome sequencing a large group of Icelanders View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-03-25

AUTHORS

Daniel F Gudbjartsson, Patrick Sulem, Hannes Helgason, Arnaldur Gylfason, Sigurjon A Gudjonsson, Florian Zink, Asmundur Oddson, Gisli Magnusson, Bjarni V Halldorsson, Eirikur Hjartarson, Gunnar Th. Sigurdsson, Augustine Kong, Agnar Helgason, Gisli Masson, Olafur Th. Magnusson, Unnur Thorsteinsdottir, Kari Stefansson

ABSTRACT

We have accumulated considerable data on the genetic makeup of the Icelandic population by sequencing the whole genomes of 2,636 Icelanders to depth of at least 10X and by chip genotyping 101,584 more. The sequencing was done with Illumina technology. The median sequencing depth was 20X and 909 individuals were sequenced to a depth of at least 30X. We found 20 million single nucleotide polymorphisms (SNPs) and 1.5 million insertions/deletions (indels) that passed stringent quality control. Almost all the common SNPs (derived allele frequency (DAF) over 2%) that we identified in Iceland have been observed by either dbSNP (build 137) or the Exome Sequencing Project (ESP) while only 60 and 20% of rare (DAF<0.5%) SNPs and indels in coding regions, the most heavily studied parts of the genome, have been observed in the public databases. Features of our variant data, such as the transition/transversion ratio and the length distribution of indels, are similar to published reports. More... »

PAGES

150011

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sdata.2015.11

DOI

http://dx.doi.org/10.1038/sdata.2015.11

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1026621968

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25977816


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curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/sdata.2015.11'

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/sdata.2015.11'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sdata.2015.11'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sdata.2015.11'


 

This table displays all metadata directly associated to this object as RDF triples.

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