Large-scale whole-genome sequencing of the Icelandic population.
about
A global reference for human genetic variationProgress and promise in understanding the genetic basis of common diseasesAnalysis of protein-coding genetic variation in 60,706 humansDeep sequencing of 10,000 human genomesA mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryApplications of comparative evolution to human disease geneticsGenomic analyses inform on migration events during the peopling of EurasiaCross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic AssociationsThe population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequencesLineage-specific genomics: Frequent birth and death in the human genome: The human genome contains many lineage-specific elements created by both sequence and functional turnoverExplorations to improve the completeness of exome sequencingThe European Bioinformatics Institute in 2016: Data growth and integrationRare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsIdentification of protein-damaging mutations in 10 swine taste receptors and 191 appetite-reward genesLeveraging human genetics to guide drug target discovery.Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.BamHash: a checksum program for verifying the integrity of sequence data.Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data setGORpipe: a query tool for working with sequence data based on a Genomic Ordered Relational (GOR) architecture.Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences.Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traitsSequence variant at 4q25 near PITX2 associates with appendicitis.Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.Reproductive fitness and genetic risk of psychiatric disorders in the general population.Non-Coding Loss-of-Function Variation in Human Genomes.Sequencing and de novo assembly of 150 genomes from Denmark as a population referenceThe UK10K project identifies rare variants in health and diseasePhysical and neurobehavioral determinants of reproductive onset and success.Clonal hematopoiesis, with and without candidate driver mutations, is common in the elderly.Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.Sequence variants from whole genome sequencing a large group of IcelandersA Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults.The ICR1000 UK exome series: a resource of gene variation in an outbred populationEfficient Coalescent Simulation and Genealogical Analysis for Large Sample Sizes.
P2860
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P2860
Large-scale whole-genome sequencing of the Icelandic population.
description
2015 nî lūn-bûn
@nan
2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Large-scale whole-genome sequencing of the Icelandic population.
@ast
Large-scale whole-genome sequencing of the Icelandic population.
@en
Large-scale whole-genome sequencing of the Icelandic population.
@nl
type
label
Large-scale whole-genome sequencing of the Icelandic population.
@ast
Large-scale whole-genome sequencing of the Icelandic population.
@en
Large-scale whole-genome sequencing of the Icelandic population.
@nl
prefLabel
Large-scale whole-genome sequencing of the Icelandic population.
@ast
Large-scale whole-genome sequencing of the Icelandic population.
@en
Large-scale whole-genome sequencing of the Icelandic population.
@nl
P2093
P50
P356
P1433
P1476
Large-scale whole-genome sequencing of the Icelandic population.
@en
P2093
Agnar Helgason
Arnaldur Gylfason
Asgeir Sigurdsson
Asgeir Theodors
Asmundur Oddson
Bjarni Thjodleifsson
Bjarni V Halldorsson
David O Arnar
Einar S Bjornsson
Eirikur Hjartarson
P2888
P304
P356
10.1038/NG.3247
P407
P50
P577
2015-03-25T00:00:00Z