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The Pedant Human Genome Database ? Functional Annotation of the Human Genome
Published 2002-01-01Get full text
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Genotype imputation in human genomic studies
Published 2024-10-01“…Imputation has become an integral part of human genomic research due to the benefits it provides and the increasing availability of imputation tools and reference sample data. …”
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Gut Microbiome: An Intersection between Human Genome, Diet, and Epigenetics
Published 2024-01-01“…Recently, the association between the human genome and the gut microbiome has been analyzed and considered a multiomic approach, and extensive genome-wide association studies were conducted to further understand the complex relationship.…”
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Right of reply - Response to: In defence of South Africa’s National Health Research Ethics Council guidelines on heritable human genome editing
Published 2025-02-01Subjects: “…human genome editing…”
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Heritable human genome editing in South Africa – time for a reality check
Published 2025-02-01Subjects: “…Heritable human genome editing, reproductive cloning, National Health Research Ethics Council Guidelines, National Health Act, South Africa…”
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Human-genome single nucleotide polymorphisms affecting transcription factor binding and their role in pathogenesis
Published 2023-11-01“…Single nucleotide polymorphisms (SNPs) are the most common type of variation in the human genome. The vast majority of SNPs identified in the human genome do not have any effect on the phenotype; however, some can lead to changes in the function of a gene or the level of its expression. …”
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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders
Published 2024-06-01“…Human Genome Variation…”
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In defence of South Africa’s National Health Research Ethics Council guidelines on heritable human genome editing
Published 2025-02-01Subjects: “…heritable human genome editing…”
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Flanking monomer repeats define lower context complexity of sites containing single nucleotide polymorphisms in the human genome
Published 2016-01-01“…We have investigated a mutation frequency within the human genome for the set of known single nucleotide polymorphisms (SNPs) from the “1000 genomes” project. …”
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Human Genomic Loci Important in Common Infectious Diseases: Role of High-Throughput Sequencing and Genome-Wide Association Studies
Published 2018-01-01“…Recently, the notion that positive selection during epidemics or longer periods of exposure to common infectious diseases may have had a major effect in modifying the constitution of the human genome is being interrogated at a large scale in many populations around the world. …”
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Genome-wide maps of highly-similar intrachromosomal repeats that can mediate ectopic recombination in three human genome assemblies
Published 2025-04-01“…We performed genome-wide analyses of direct and inverted intrachromosomal repeated sequence pairs with 200 bp or more and 80% or greater sequence identity in three human genome assemblies, GRCh37, GRCh38, and T2T-CHM13. …”
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ENCODE: A Sourcebook of Epigenomes and Chromatin Language
Published 2013-03-01Subjects: Get full text
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Genome-Wide Profiling of Human Papillomavirus DNA Integration into Human Genome and Its Influence on PD-L1 Expression in Chinese Uygur Cervical Cancer Women
Published 2020-01-01“…There were some integration hotspots in human genome such as PPP1R37, HECW2, EMBP1, ANKRD50, SPTBN4, LINC00895, LYRM4-AS1, LINC00374, RBFOX1, CSMD1, CDH13, and KLHL4. …”
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Genetic polymorphisms and related risk factors of ischemic stroke in a Mongolian population in China
Published 2017-11-01Subjects: Get full text
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Evolution of CpG-islands by means of tandem duplications
Published 2017-02-01Subjects: Get full text
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A Primer for Disease Gene Prioritization Using Next-Generation Sequencing Data
Published 2013-12-01Subjects: Get full text
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A scalable tool for analyzing genomic variants of humans using knowledge graphs and graph machine learning
Published 2025-01-01Subjects: Get full text
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A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going
Published 2012-12-01Subjects: Get full text
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