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The international Genome sample resource (IGSR): A worldwide collection of genome variation incorporating the 1000 Genomes Project data
2016
Nucleic Acids Research
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The International Genome Sample Resource (IGSR; http://www.internationalgenome.org) expands in data type and population diversity the resources from the 1000 Genomes Project. ...
IGSR is collecting new structural variation data on the 1000 Genomes samples from long read sequencing and other technologies, and will collect relevant functional data into a single comprehensive resource ...
ACKNOWLEDGEMENT The authors thank the members of the 1000 Genomes Project for supporting the establishment of the International Genome Sample Resource and Richard Durbin and Bartha Knoppers for support ...
doi:10.1093/nar/gkw829
pmid:27638885
pmcid:PMC5210610
fatcat:v3n4pxwbzzbpjmnwbns2uskqhu
Applications of the 1000 Genomes Project resources
2016
Briefings in Functional Genomics
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The 1000 Genomes Project created a valuable, worldwide reference for human genetic variation. ...
In this article, we will highlight some of the multiple ways that the 1000 Genomes data can be and has been utilized for genetic studies. ...
Acknowledgements We thank Sophie Janacek for a critical reading of the manuscript and the members of the 1000 Genomes Project Consortium. ...
doi:10.1093/bfgp/elw027
pmid:27436001
pmcid:PMC5439288
fatcat:3klaiyxvzngxpjrqzj2i3rrbj4
General resources in Genetics and/or Oncology
2017
Atlas of Genetics and Cytogenetics in Oncology and Haematology
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This "Deep Insight" is a detailed subchapter of a general review article and summary on Internet databases for cytogeneticists: Internet databases and resources for cytogenetics and cytogenomics. ...
The International Genome Sample Resource (IGSR) is maintaining and extending the 1000 Genomes Project data. ...
In continuation of the 1000 Genome project (sequencing 1000 human genome as exomes or whole genomes), the International Genome Sample Resource (IGSR) aims to expand information to new populations, a better ...
doi:10.4267/2042/62946
fatcat:ogpkbnstcnbrnm6pawmf32npua
General resources in Genetics and/or Oncology
2017
Atlas of Genetics and Cytogenetics in Oncology and Haematology
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The file type is application/pdf.
This "Deep Insight" is a detailed subchapter of a general review article and summary on Internet databases for cytogeneticists: Internet databases and resources for cytogenetics and cytogenomics. ...
The International Genome Sample Resource (IGSR) is maintaining and extending the 1000 Genomes Project data. ...
In continuation of the 1000 Genome project (sequencing 1000 human genome as exomes or whole genomes), the International Genome Sample Resource (IGSR) aims to expand information to new populations, a better ...
doi:10.4267/2042/62779
fatcat:j3jbmjapd5b3ndhz2xsf7mgaki
Unlocking Big Data for better health
2017
Nature Biotechnology
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The IGSR will maintain the data collections from the 1000 Genomes Project, and enable the addition of new samples and data types. ...
Other resources include the International Genome Sample Resource, which incorporates the data of the 1000 Genomes Project, and the curated GWAS catalog. ...
doi:10.1038/nbt.3918
pmid:28700551
fatcat:oqiurm5cgzec7lfenvjvlemxoy
Estimating prevalence of human traits among populations from polygenic risk scores
2021
Human Genomics
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We applied a population-specific PRS (psPRS) to 26 populations from the 1000 Genomes to four phenotypes: lactase persistence (LP), melanoma, multiple sclerosis (MS) and height. ...
AbstractThe genetic basis of phenotypic variation across populations has not been well explained for most traits. ...
Genomes To assess the role of PRSs in predicting population phenotype distributions, we chose to use only the populations included in The International Genome Sample Resource (IGSR) from the 1000 Genomes ...
doi:10.1186/s40246-021-00370-z
pmid:34903281
pmcid:PMC8670062
fatcat:6puhfq4vmnhgfjfwu5qyuk24ay
The Human Cell Atlas White Paper
[article]
2018
arXiv
pre-print
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We will therefore pursue Phase 1 as a suite of flagship projects in key tissues, systems, and organs. ...
the resulting resource is truly global. ...
With somewhat similar goals in mind, the International Genome Sample Resource (IGSR) was established at the EMBL in 2015 to ensure the ongoing utility and relevance of the 1000 Genomes Project, while further ...
arXiv:1810.05192v1
fatcat:4ilghu22pvcr7dfmq354z3pdya
Identification and characterization of two functional variants in the human longevity gene FOXO3
2017
Nature Communications
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We experimentally validate the in silico predicted allele-dependent binding of transcription factors (CTCF, SRF) to the SNVs. ...
FOXO3 is consistently annotated as a human longevity gene. However, functional variants and underlying mechanisms for the association remain unknown. ...
The genotyping of French samples was supported by the Commissariat à l'Energie Atomique-Centre National de Génotypage. ...
doi:10.1038/s41467-017-02183-y
pmid:29234056
pmcid:PMC5727304
fatcat:xdqocw7xdbfxnmyrhqmqsk6dm4
Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine
2017
Progress in retinal and eye research
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As the genomics age emerged, it appeared the time was right to renew investigation into genetics. ...
Results of the first genome-wide association study to identify polymorphisms associated with SIOH, and follow-up on two novel genes linked to the disorder, GPR158 and HCG22, is discussed in the second ...
The International Genome Sample Resource (IGSR) (http://www.1000genomes.org/) tells us that the frequency of some of the genetic variants associated with IOP response to glucocorticoids identified in our ...
doi:10.1016/j.preteyeres.2016.09.003
pmid:27666015
pmcid:PMC5237612
fatcat:6mhhg65aurbrjl63b2lay2r5ci
Genome-wide investigation of selection patents in the Greek population
[article]
2021
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project. ...
In the present study we are examining the genetic variation of the Greek population in comparison with other European ones. ...
As a result of each success of the 1000 Genome Project, The International Genome Sample Resource (IGSR) was set up to ensure the continuous future access and the use of data generated, incorporate additional ...
doi:10.26257/heal.duth.11604
fatcat:af6igdbg2vhttf2arc3bjn75uu
Copy number variation of the bacteria-binding mucosal glycoprotein DMBT1: mutation rate, balancing selection and transcript length
2022
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Genome scans using genetic variation data have identified regions of balancing selection, yet in almost all cases the genetic and functional basis is unknown. ...
Population genetics analysis was used as an indirect method to estimate the recombination rate based on the historic patterns of genetic variations among DNA sequences of natural populations. ...
Acknowledgments I gratefully acknowledge my PhD sponsor in Saudi Arabia, the Ministry of Health (MOH), for giving me this opportunity to do my PhD and for their financial support. Thanks also to the ...
doi:10.25392/leicester.data.19336496.v1
fatcat:syiuhx74hnbgpofpg5dmzw66qe
Identification and characterization of causative variants of periodontitis in the gene ST8SIA1
[article]
2021
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The putative effect T-allele of rs2012722 decreased BACH1 binding by 40%. ST8SIA1 was pinpointed as a target gene of the association. ...
This system was used to identify putative causal variants of a genetic association at the gene ST8SIA1 that increased the risk of periodontitis in smokers. ...
A typical genome differs from the reference human genome at up to 5.0 million sites according to the 1000 Genomes Project Consortium (1000g) (influence on the pathogenesis of a genetic disease (direct ...
doi:10.14279/depositonce-12449
fatcat:cwltfvrwqbcudivobdkyev2y3u