Results 21 to 30 of about 644,208 (305)
From the double helix to the personal genomes
Apollo Medicine, 2023 In 1954, the seminal short paper in the Nature from James Watson and Francis Crick proposed the double helix model of deoxyribose nucleic acid. This amateur-looking concept changed the way molecular biology is now perceived. We are now celebrating the 70
Dhavendra Kumar
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Genome Medicine, 2021 Background Identification of germline variation and somatic mutations is a major issue in human genetics. However, due to the limitations of DNA sequencing technologies and computational algorithms, our understanding of genetic variation and somatic ...
Akihiro Fujimoto +9 more
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Robustness of Massively Parallel Sequencing Platforms. [PDF]
PLoS ONE, 2015 The improvements in high throughput sequencing technologies (HTS) made clinical sequencing projects such as ClinSeq and Genomics England feasible. Although there are significant improvements in accuracy and reproducibility of HTS based analyses, the ...
Pınar Kavak +9 more
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The Human Genome Project [PDF]
Rheumatology, 1998 The Human Genome Project (HGP) was conceived in the mid-1980s as an ambitious effort to characterize the human genome, ultimately culminating with a complete DNA sequence by the year 2005. The accomplishment of this goal would locate the ~80,000 genes and provide the DNA sequence (~3 × 109 bp) for the entire genome at an estimated cost of $3 billion ...
openaire +4 more sources
The human genome as the common heritage of humanity
Frontiers in Genetics, 2023 While debate on the international regulation of human genomic research remains unsettled, the Universal Declaration on the Human Genome and Human Rights, 1997 qualifies the human genome as “heritage of humankind” in a symbolic sense.
Faith Kabata +2 more
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Blockchain for Genomics: A Systematic Literature Review [PDF]
, 2021 Human genomic data carry unique information about an individual and offer unprecedented opportunities for healthcare. The clinical interpretations derived from large genomic datasets can greatly improve healthcare and pave the way for personalized medicine.
arxiv +1 more source
Hepatology Communications, 2020 Nonalcoholic fatty liver disease (NAFLD) is supposed to manifest its metabolic phenotype in the liver, but it is common to have lean individuals diagnosed with NAFLD, known as lean NAFLD.
Ken Yoshida +11 more
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A Short History of the Genome-Wide Association Study: Where We Were and Where We Are Going [PDF]
Genomics & Informatics, 2012 Recent rapid advances in genetic research are ushering us into the genome sequence era, where an individual's genome information is utilized for clinical practice.
Shiro Ikegawa
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ENCODE: A Sourcebook of Epigenomes and Chromatin Language [PDF]
Genomics & Informatics, 2013 Until recently, since the Human Genome Project, the general view has been that the majority of the human genome is composed of junk DNA and has little or no selective advantage to the organism.
Maryam Yavartanoo, Jung Kyoon Choi
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GDC 2: Compression of large collections of genomes [PDF]
Scientific Reports, Article no. 11565 (2015), 2015 The fall of prices of the high-throughput genome sequencing changes the landscape of modern genomics. A number of large scale projects aimed at sequencing many human genomes are in progress. Genome sequencing also becomes an important aid in the personalized medicine.
arxiv +1 more source