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Large-scale whole-genome sequencing of the Icelandic population

Nature Genetics

Mar 26, 2015

Daniel F GudbjartssonKari Stefansson

Abstract

Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional...read more

Mentioned in this Paper

Genome-Wide Association Study
Study
Biochemical Pathway
Positioning Attribute
ABCB4 gene
GNAS gene
Genome
Genes
G-Protein-Coupled Receptors
Myosin light chain 4, human
176
27
19
710
1
Paper Details
References
  • References74
  • Citations177
12345...
  • References74
  • Citations177
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Large-scale whole-genome sequencing of the Icelandic population

Nature Genetics

Mar 26, 2015

Daniel F GudbjartssonKari Stefansson

PMID: 25807286

DOI: 10.1038/ng.3247

Abstract

Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence variants in relation to their functional...read more

Mentioned in this Paper

Genome-Wide Association Study
Study
Biochemical Pathway
Positioning Attribute
ABCB4 gene
GNAS gene
Genome
Genes
G-Protein-Coupled Receptors
Myosin light chain 4, human
176
27
19
710
1

Similar Papers Found In These Feeds

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.

GPCRs Signaling Pathway

G-protein coupled receptors (GPCRs) are membrane receptors implicated in the pathophysiology of various diseases, including neurodegenerative disorders, infectious diseases, and cancer. Here is the latest research on GPCR signaling pathway.

Related Papers

Nature Genetics

Mutations in BRIP1 confer high risk of ovarian cancer

Nature GeneticsOctober 4, 2011
Thorunn RafnarKari Stefansson
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Identification of a large set of rare complete human knockouts

Nature GeneticsMarch 26, 2015
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Paper Details
References
  • References74
  • Citations177
12345...
  • References74
  • Citations177
12345...
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