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The 1000 Genomes Project: new opportunities for research and social challenges

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Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1038/nature06611openalex-snapshot
Proportionally more deleterious genetic variation in European than in African populations
inferredcites →https://doi.org/10.1126/science.1167728openalex-snapshot
Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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The rules of variation: Amino acid exchange according to the rotating circular genetic code
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In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene
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Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome
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Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3
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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
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A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula
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Crossing disciplinary lines: reconciling social and genomic perspectives on the histories and legacies of the transatlantic trade in enslaved Africans
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Genome-wide Significant Associations for Variants With Minor Allele Frequency of 5% or Less—An Overview: A HuGE Review
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Savant: genome browser for high-throughput sequencing data
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A comparison of several algorithms for the single individual SNP haplotyping reconstruction problem
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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene
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Co-cultivation of microbial sub-communities in microfluidic droplets facilitates high-resolution genomic dissection of microbial ‘dark matter’
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GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing
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ENCODE whole-genome data in the UCSC genome browser (2011 update)
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Natural variability of minimotifs in 1092 people indicates that minimotifs are targets of evolution
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The genetics of coronary artery disease
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Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis
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Toward Efficient Variant Calling Inside Main-Memory Database Systems
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Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes
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Young and early‐onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations
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Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction
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Molecular and Functional Characterization of RareCACNA1CVariants in Sudden Unexplained Death in the Young
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The replication of the association of the rs6832151 within chromosomal band 4p14 with Graves' disease in a Polish Caucasian population
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The A/G Allele of Rs16906252 Predicts for MGMT Methylation and Is Selectively Silenced in Premalignant Lesions from Smokers and in Lung Adenocarcinomas
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Sequenciamento de nova geração do gene IRF4: identificação de variações associadas a fenótipos de pigmentação na população brasileira
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Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome
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Public health in the genomic era: will Public Health Genomics contribute to major changes in the prevention of common diseases?
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Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
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Sequencing by ligation variation with endonuclease V digestion and deoxyinosine-containing query oligonucleotides
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The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine
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Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation
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OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)
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Microarray-Based Maps of Copy-Number Variant Regions in European and Sub-Saharan Populations
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Detecting Low Frequent Loss-of-Function Alleles in Genome Wide Association Studies with Red Hair Color as Example
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Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes
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The pharmacogenomics of vincristine-induced neurotoxicity in paediatric cancer patients with Wilms tumor or rhabdomyosarcoma
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Chromosomocentric approach to overcoming difficulties in implementation of international project Human Proteome
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Chromosome-centric approach to overcoming bottlenecks in the Human Proteome Project
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Innovation versus evidence: to trust direct-to-consumer personal genomic tests?
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Next-generation sequencing applied to molecular diagnostics
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A knowledge federation architecture for rare disease patient registries and biobanks
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Saturation of the Human Phenome
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Trends in Genome Compression
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Statistical Optimization of Pharmacogenomics Association Studies: Key Considerations from Study Design to Analysis
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Genome-wide association studies of Type 2 diabetes: are these ready to make an impact in the clinic?
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Germline Genetic Markers for Urinary Bladder Cancer Risk, Prognosis and Treatment Response
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Role of Interactions in Pharmacogenetic Studies: Leukotrienes in Asthma
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Developing an Integrated Genomic Profile for Cancer Patients with the Use of NGS Data
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A new INDEL detection strategy based on feature extraction
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Data Integration Challenges for Machine Learning in Precision Medicine
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The genetic determinants of oral diseases in Africa: The gaps should be filled
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Association Testing of a Group of Genetic Markers Based on Next-Generation Sequencing Data and Continuous Response Using a Linear Model Framework
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Next-Generation Sequencing Data-Based Association Testing of a Group of Genetic Markers for Complex Responses Using a Generalized Linear Model Framework
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Increasing the Discovery Power and Confidence Levels of Disease Association Studies: A Survey
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Genetische Polymorphismen in Typ-III-Interferon-Genen und deren prognostische Signifikanz fur das hepatozelluläre Karzinom und das duktale Pankreasadenokarzinom
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Gene-Environment Interplay for Well-Being
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Approaches for Dissection of the Genetic Basis of Complex Disease Development in Human
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Genetic association analysis of complex diseases through information theoretic metrics and linear pleiotropy
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Additional file 10 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874194openalex-snapshot
Additional file 11 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874197openalex-snapshot
Additional file 12 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874200openalex-snapshot
Additional file 1 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874203openalex-snapshot
Additional file 2 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874206openalex-snapshot
Additional file 3 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874209openalex-snapshot
Additional file 4 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874212openalex-snapshot
Additional file 5 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874215openalex-snapshot
Additional file 6 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874218openalex-snapshot
Additional file 7 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874221openalex-snapshot
Additional file 8 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874224openalex-snapshot
Additional file 9 of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.12874227openalex-snapshot
Additional file of Integration of Solexa sequences on an ultradense genetic map in Brassica rapa L.
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673267openalex-snapshot
Additional file 1 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673270openalex-snapshot
Additional file 2 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673273openalex-snapshot
Additional file 3 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673276openalex-snapshot
Additional file 4 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673279openalex-snapshot
Additional file 5 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673282openalex-snapshot
Additional file 6 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673285openalex-snapshot
Additional file 7 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673288openalex-snapshot
Additional file 8 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.6084/m9.figshare.26673291openalex-snapshot
Additional file 9 of LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
inferred← citeshttps://doi.org/10.64898/2026.09.01.26361969openalex-snapshot
Established polygenic risk score for hypercholesterinemia demonstrates discriminatory value and risk stratification in an independent German Cohort
inferred← citeshttps://doi.org/10.70675/61f0bd4dzc25az4991z9d80z68f70d9a3df2openalex-snapshot
Développement de méthodes et d'algorithmes pour la caractérisation et l'annotation des transcriptomes avec les séquenceurs haut débit.
inferred← citeshttps://doi.org/10.70675/7aa446d2z1ecaz483dz8cc7ze1e8880dbcf4openalex-snapshot
Recherche et caractérisation de biomarqueurs pronostiques dans les leucémies myélomonocytaires chroniques et aiguës myéloïdes par exploration des transcriptomes
inferred← citeshttps://doi.org/10.7554/elife.08077openalex-snapshot
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)
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