100 Years of evolving gene-disease complexities and scientific debutants.

100 Years of evolving gene-disease complexities and scientific debutants.

Publication date: Apr 11, 2019

It’s been over 100 years since the word ‘gene’ is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it’s about, e.g. triple code development, gene number proposition, genetic mapping, data banks, gene-disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data and next generation sequencing, etc. In this manuscript, we present the progress of genomics from pea plant genetics to the human genome project and highlight the molecular, technical and computational developments. Studying genome and epigenome led to the fundamentals of development and progression of human diseases, which includes chromosomal, monogenic, multifactorial and mitochondrial diseases. World Health Organization has classified, standardized and maintained all human diseases, when many academic and commercial online systems are sharing information about genes and linking to associated diseases. To efficiently fathom the wealth of this biological data, there is a crucial need to generate appropriate gene annotation repositories and resources. Our focus has been how many gene-disease databases are available worldwide and which sources are authentic, timely updated and recommended for research and clinical purposes. In this manuscript, we have discussed and compared 43 such databases and bioinformatics applications, which enable users to connect, explore and, if possible, download gene-disease data.

Zeeshan, S., Xiong, R., Liang, B.T., and Ahmed, Z. 100 Years of evolving gene-disease complexities and scientific debutants. 04404. 2019 Brief Bioinform.

Concepts Keywords
Cas9 Cas9
CRISPR Genomics
Epigenome Human Nature
Fathom CRISPR
Gene Gene Disease Database
Genetic Disorders Emerging technologies
Genetic Mapping Biological databases
Genome Genetic engineering
Genomics Immune system
Manuscript Genome editing
Mitochondrial Diseases Life sciences
Monogenic Branches of biology
Pea Standardized maintained diseases
Proposition Fundamentals progression diseases
Sequencing Download gene disease
Time Databases applications

Semantics

Type Source Name
disease MESH mitochondrial diseases
gene UNIPROT SMIM10L2A
gene UNIPROT SMIM10L2B
drug DRUGBANK Palmidrol
disease MESH genetic disorders
disease MESH development

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