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Genomics02:02

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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A Knowledge Graph Approach to Elucidate the Role of Organellar Pathways in Disease via Biomedical Reports
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The DisGeNET knowledge platform for disease genomics: 2019 update.

Janet Piñero1, Juan Manuel Ramírez-Anguita1, Josep Saüch-Pitarch1

  • 1Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Pompeu Fabra University (UPF), Barcelona, Spain.

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Summary

DisGeNET is a platform that integrates genetic variation data to identify disease-associated genes. It aids genomic medicine by standardizing and providing access to comprehensive genetic and disease information.

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Area of Science:

  • Genomic Medicine
  • Bioinformatics
  • Computational Biology

Background:

  • Understanding genetic variation's role in health and disease is crucial.
  • Large-scale genomic variant exploration has identified numerous disease-associated loci.
  • Identifying clinically relevant variants remains challenging, requiring integrated knowledge.

Purpose of the Study:

  • To present DisGeNET, a knowledge management platform for disease-associated genes and variants.
  • To facilitate the identification of clinically relevant genetic variations.
  • To support applications in genomic medicine and drug discovery and development (R&D).

Main Methods:

  • Integrated and standardized data from multiple sources, including scientific literature.
  • Developed a knowledge management platform with a redesigned web interface and APIs.
  • Incorporated expert-curated information and data mined from scientific literature.

Main Results:

  • DisGeNET covers over 24,000 diseases/traits, 17,000 genes, and 117,000 genomic variants.
  • The platform includes new data sources, attributes, and prioritization metrics.
  • DisGeNET provides standardized, interoperable data for various applications.

Conclusions:

  • DisGeNET is a valuable resource for genomic medicine and drug R&D.
  • The platform's comprehensive data and tools aid in understanding genetic variation and disease.
  • Standardization and integration of data enhance the utility of genomic information.