A map of human genome variation from population scale sequencing
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Summary
The pilot phase of the 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype, and it is shown that, because the vast majority of common variation is catalogued, over 95% of the currently accessible variants found in any individual are present in this data set.
- Type
- article
- Published
- 2010-10-28
- Cited by
- 7,978
- References
- 72
- Access
- Open access
- OpenAlex
- https://openalex.org/W2129016996
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4405019
Keywords
Human genome, Scale (ratio), Variation (astronomy), Population, Biology
References
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- [Copy number variations in the human genome: their mutational mechanisms and roles in diseases].
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- Clinical Neurogenetics: Stroke
- Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.
- Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: Results of a genome-wide association study
- Remarkable difference of somatic mutation patterns between oncogenes and tumor suppressor genes.
- Absence of APOL1 Risk Variants Protects against HIV-Associated Nephropathy in the Ethiopian Population
- Mutagen-Specific Mutation Signature Determines Global microRNA Binding
- Estimating demographic parameters from large-scale population genomic data using Approximate Bayesian Computation
- Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children
- Origins and Genetic Legacy of Neolithic Farmers and Hunter-Gatherers in Europe
- Comprehensive evaluation of imputation performance in African Americans
- Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
- HapZipper: sharing HapMap populations just got easier
- Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
- Pharmacogenomics and individualized medicine: Translating science into practice
- Genome-Wide Association Study of d-Amphetamine Response in Healthy Volunteers Identifies Putative Associations, Including Cadherin 13 (CDH13)
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- The transcriptional landscape and mutational profile of lung adenocarcinoma
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