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GENCODE: The reference human genome annotation for The ENCODE Project
Genome Research, 2012 The GENCODE Consortium aims to identify all gene features in the human genome using a combination of computational analysis, manual annotation, and experimental validation.
J. Harrow +40 more
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Short arms of human acrocentric chromosomes and the completion of the human genome sequence
Genome Research, 2022 The complete, ungapped sequence of the short arms of human acrocentric chromosomes (SAACs) is still unknown almost 20 years after the near completion of the Human Genome Project.
S. Antonarakis
semanticscholar +1 more source
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
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
doaj +1 more source
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
doaj +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
doaj +1 more source
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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An Integrated Encyclopedia of DNA Elements in the Human Genome
Nature, 2012 The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor
ENCODEConsortium, Martin Renqiang Min
semanticscholar +1 more source
Intergenerational effect of short-term spaceflight in mice
iScience, 2021 Summary: As space travel becomes more accessible, it is important to understand the effects of spaceflight including microgravity, cosmic radiation, and psychological stress. However, the effect on offspring has not been well studied in mammals.
Keisuke Yoshida +9 more
doaj +1 more source